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Basic findings and current developments in sphingolipidoses

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Summary

Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.

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References

  • Argyrakis, A., Pilz, H., Goebel, H. H., Müller, D.: Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy. J. Neuropathol. Exp. Neurol. 36, 693–711 (1977)

    Google Scholar 

  • Austin, J. H.: Metachromatic sulfatides in cerebral white matter and kidney. Proc. Soc. Exp. Biol. 100, 361–364 (1959)

    Google Scholar 

  • Austin, J. H.: Metachromatic leukodystrophy (sulfatide lipidosis). In: Lysosomes and storage disease. H. G. Hers, F. van Hoof, eds., pp. 411–437. New York-London: Academic Press 1973

    Google Scholar 

  • Austin, J. H., Armstrong, D., Shearer, L.: Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: A controlled study of brain, liver and kidneys in four patients with metachromatic leucodystrophy (MLD). Arch. Neurol. 13, 593–614 (1965)

    Google Scholar 

  • Baecque, C. M. de, Suzuki, K., Rapin, I., Johnson, A. B., Whethers, D. L., Suzuki, K.: GM2-gangliosidosis, AB variant. Clinico-pathological study of a case. Acta Neuropathol. (Berl.) 33, 207–226 (1975)

    Google Scholar 

  • Baum, H., Dodgson, K. S., Spencer, B.: The assay of arylsulphatases A and B in human urine. Clin. Chim. Acta 4, 453–455 (1959)

    Google Scholar 

  • Belfiore, F., Vecchio, L. L., Napoli, E., Borzi, V.: Increased β-N-acetyl-glucosaminidase activity in diabetes mellitus. Clin. Chem. 20, 1229–1230 (1974)

    Google Scholar 

  • Bergsma, D., Desnick, R. J., Bernlohr, R. W., Krivit, W. (eds.): Enzyme Therapy in Genetic Diseases. Birth Defects Original Article Series, Vol. IX/2. Baltimore: Williams and Wilkins 1973

    Google Scholar 

  • Beutler, E., Kuhl, W.: Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes. Lancet 1970 I, 612–613

    Google Scholar 

  • Beutler, E., Kuhl, W.: Purification and properties of human α-galactosidases. J. Biol. Chem. 247, 7195–7200 (1972)

    Google Scholar 

  • Beutler, E., Kuhl, W.: Subunit structure of human hexosaminidase verified: Interconvertibility of hoxosaminidase isozymes. Nature 258, 262–263 (1975a)

    Google Scholar 

  • Beutler, E., Kuhl, W., Teplitz, R., Nadler, H.: β-Glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. Am. J. Hum. Genet. 23, 62–66 (1971)

    Google Scholar 

  • Beutler, E., Kuhl, W., Comings, D.: Hexosaminidase isozyme in type 0 GM2 gangliosidosis (Sandhoff-Jatzkewiz disease). Am. J. Hum. Genet. 27, 628–638 (1975)

    Google Scholar 

  • Bischoff, A., Ulrich, J.: Peripheral neurophathy in globoid cell leukodystrophy (Krabbe's disease). Ultrastructural and histochemical findings. Brain 92, 861–870 (1969)

    Google Scholar 

  • Brady, R. O.: Prenatal diagnosis of lipid storage diseases. Clin. Chem. 16, 811–815 (1970)

    Google Scholar 

  • Brady, R. O., Gal, A. E., Bradley, R. M., Martensson, E., Warshaw, A. L., Laster, L.: Enzymatic defect in Fabry's disease: Ceramide trihexosidase deficiency. N. Engl. J. Med. 276, 1163–1167 (1967)

    Google Scholar 

  • Brady, R. O., Kanfer, J. N., Shapiro, D.: Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun. 18, 221–225 (1965)

    Google Scholar 

  • Brady, R. O., Pentchev, P. G., Gal, A. E.: Investigations in enzyme replacement therapy in lipid storage diseases. Fed. Proc. 34, 1310–1315 (1975)

    Google Scholar 

  • Brady, R. O., Tallman, J. F., Johnson, W. G., Gal, A. E., Leaky, W. R., Quirk, J. M., Dekaban, A. S.: Replacement therapy for inherited enzyme deficiency in Fabry's disease. N. Engl. J. Med. 289, 9–13 (1973)

    Google Scholar 

  • Brady, R. O., Uhlendorf, B. W., Jacobson, C. B.: Fabry's disease: Antenatal diagnosis. Science 172, 172–175 (1971)

    Google Scholar 

  • Braidman, I., Carroll, M., Dance, N., Robinson, D.: Separation and properties of human brain hexosaminidase C. Biochem. J. 143, 295–302 (1974)

    Google Scholar 

  • Brett, E. M., Ellis, R. B., Haas, L., Ikonne, J. U., Lake, B. D., Patrick, A. D., Stephens, R.: Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients. Arch. Dis. Child. 48, 775–785 (1973)

    Google Scholar 

  • Brewster, M. A., Whaley, S. A., Kane, A. C.: Variables in the laboratory diagnosis of Fabry's disease by measurement of methylumbelliferyl-α-galactosidase activity. Clin. Chem. 20, 383–386 (1974)

    Google Scholar 

  • Callahan, J. W., Khalil, M.: Sphingomyelinases in human tissues. 3. Expression of Niemann-Pick disease in cultured skin fibroblasts. Pediatr. Res. 9, 914–918 (1975)

    Google Scholar 

  • Callahan, J. W., Khalil, M., Gerrie, J.: Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C. Biochem. Biophys. Res. Commun. 58, 384–390 (1974)

    Google Scholar 

  • Callahan, J. W., Khalil, M., Philippart, M.: Sphingomyelinases in human tissues. 2. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C. Pediatr. Res. 9, 908–913 (1975)

    Google Scholar 

  • Callahan, J. W., Pinsky, L., Wolfe, L. S.: GM1-gangliosidosis (type II): Studies on a fibroblast cell strain. Biochem. Med. 4, 295–316 (1970)

    Google Scholar 

  • Cantz, M., Kresse, H.: Sandhoff disease: Defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by N-acetylhexosaminidase. Eur. J. Biochem. 47, 581–590 (1974)

    Google Scholar 

  • Carmody, P. J., Rattazzi, M. C., Davidson, R. G.: Tay-Sachs disease—use of tears for detection of heterozygotes. N: Engl. J. Med. 289, 1072–1074 (1973)

    Google Scholar 

  • Chou, L., Kaye, C. J., Nadler, H. L.: Brain β-galactosidase and GM1-gangliosidosis. Pediatr. Res. 8, 120–143 (1974)

    Google Scholar 

  • Christensen-Lou, H. O.: A biochemical investigation of angiokeratoma corporis diffusum. Acta pathol. Microbiol. Scand. 68, 332–341 (1966)

    Google Scholar 

  • Crawhall, J. C., Banfalvi, M.: Fabry's disease: Differentiation between two forms of α-galactosidase by myoinositol. Science 177, 527–528 (1972)

    Google Scholar 

  • Crocker, A. C., Farber, S.: Niemann-Pick disease: A review of 18 patients. Medicine (Baltimore) 37, 1–95 (1958)

    Google Scholar 

  • Crome, L., Hanefeld, F., Patrick, D., Wilson, J.: Late onset globoid cell leukodystrophy. Brain 96, 841–848 (1973)

    Google Scholar 

  • Dacremont, G., Kint, J. A.: GM1-ganglioside accumulation and β-galactosidase deficiency in a case of GM1-gangliosidosis (Landing disease). Clin. Chim. Acta 21, 421–425 (1968)

    Google Scholar 

  • Danes, B. S., Bearn, A. G.: Gaucher's disease: A genetic disease detected in skin fibroblast cultures. Science 161, 1347–1348 (1968)

    Google Scholar 

  • Davison, A. N., Gregson, N. A.: The physiological role of cerebron sulphuric acid (sulphatide) in the brain. Biochemistry J. 85, 558–568 (1962)

    Google Scholar 

  • Delvin, E. E., Pottier, A., Glorieux, F. H.: Comparative activity of arylsulphatases A and B on two synthetic substrates. Biochemistry J. 157, 353–356 (1976)

    Google Scholar 

  • Desnick, R. J., Allen, K. Y., Desnick, S. J., Raman, M. K., Bernlohr, R. W., Krivit, W.: Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, urine, and leukocytes. J. Lab. Clin. Med. 81, 157–171 (1973a)

    Google Scholar 

  • Desnick, R. J., Allen, K. Y., Simmons, R. L., Woods, J. E., Anderson, C. F., Najarian, J. S., Krivit, W.: Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery 72, 203–211 (1972)

    Google Scholar 

  • Desnick, R. J., Dawson, G., Desnick, S. J., Sweeley, C. C., Krivit, W.: Diagnosis of glycosphingolipidoses by urinary sediment analysis. N. Engl. J. Med. 284, 739–744 (1971)

    Google Scholar 

  • Desnick, R. J., Krivit, W., Sharp, H. L.: In utero diagnosis of Sandhoff's disease. Biochem. Biophys. Res. Commun. 51, 20–26 (1973b)

    Google Scholar 

  • Desnick, R. J., O'Dea, R. F., Krivit, W.: Fabry's disease—Angiokeratoma corporis diffusum universale. In: Handbuch der inneren Medizin, Vol. VII/4 (Fettstoffwechsel). G. Schettler, H. Greten, G. Schlierf, D. Seidel, eds., pp. 597–611. Berlin-Heidelberg-New York: Springer 1976

    Google Scholar 

  • Desnick, R. J., Raman, M. K., Bendel, R. P., Kersey, J., Lee, J. C., Krivit, W., Sharp, H. L.: Prenatal diagnosis of glycosphingolipidoses: Sandhoff's and Fabry's disease. J. Pediatr. 83, 149–150 (1973c)

    Google Scholar 

  • Dreyfus, J. C., Poenaru, L., Svennerholm, L.: Absence of hexosaminidase A and B in a normal adult. N. Engl. J. Med. 292, 61–63 (1975)

    Google Scholar 

  • Dubois, G., Harzer, K., Baumann, N.: Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. Am. J. Hum. Genet. 29, 191–194 (1977)

    Google Scholar 

  • Dulaney, J. T., Milunsky, A., Sidbury, J. B., Hobolth, N., Moser, H. W.: Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts. J. Pediatr. 89, 59–61 (1976)

    Google Scholar 

  • Dunn, H. G., Dolman, C. L., Farrell, D. F., Tischler, B., Hasinoff, C., Woolf, L. J.: Krabbe's leukodystrophy without globoid cells. Neurology (Minneap.) 26, 1035–1041 (1976)

    Google Scholar 

  • Epstein, C. J., Brady, R. O., Schneider, E. L., Bradley, R. M., Shapiro, D.: In utero diagnosis of Niemann-Pick disease. Am. J. Hum. Genet. 23, 533–535 (1971)

    Google Scholar 

  • Eto, Y., Rampini, S., Wiesmann, U., Herschkowitz, N. N.: Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: Arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases. J. Neurochem. 23, 1161–1170 (1974)

    Google Scholar 

  • Farber, S.: A lipid metabolic disorder-disseminated “Lipogranulomatosis”—A syndrome with similarity to, and important difference from, Niemann-Pick, and Hand-Schüller-Christian disease. Am. J. Dis. Child. 84, 499–500 (1952)

    Google Scholar 

  • Farber, S., Cohen, J., Uzman, L. L.: Lipogranulomatosis; a new lipo-glycoprotein storage disease. J. Mount Sinai Hosp. (N.Y.) 24, 816–837 (1957)

    Google Scholar 

  • Fischer, G., Jatzkewitz, H.: The activator of cerebroside sulphatase. Purification from human liver and identification as a protein. Hoppe Seylers Z. Physiol. Chem. 356, 605–613 (1975)

    Google Scholar 

  • Fishman, P. H., Max, S. R., Tallman, J. F., Brady, R. O., MacLaren, N. K., Cornblath, M.: Deficient ganglioside biosynthesis: A novel human sphingolipidosis. Science 187, 68–70 (1975)

    Google Scholar 

  • Fluharty, A. L., Stevens, R. L., Miller, R. T., Hayato, K.: Sulfoglycerogalactolipid from rat testis: a substrate for pure human arylsulfatase A. Biochem. Biophys. Res. Commun. 61, 348–354 (1974)

    Google Scholar 

  • Fredrickson, D. S., Sloan, H. R.: Glucosyl ceramide lipidoses: Gaucher's disease. In: The metabolic basis of inherited disease. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson eds., 3rd ed., pp. 730–759. New York: McGraw Hill 1972a

    Google Scholar 

  • Fredrickson, D. S., Sloan, H. R.: Sphingomyelin lipidoses: Niemann-Pick disease. In: The metabolic basis of inherited disease. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, eds. 3rd ed., pp. 783–807. New York: McGraw-Hill 1972b

    Google Scholar 

  • Fricker, H., O'Brien, J. S., Vasella, F., Gugler, E., Mühlethaler, J. P., Psycher, M., Wiesmann, U. N., Herschkowitz, N.: Generalized gangliosidosis: Acid β-galactosidase deficiency with early onset, rapid mental dererioration and minimal bone dysplasia. J. Neurol. 213, 273–281 (1976)

    Google Scholar 

  • Friedland, J., Schneck, L., Saifer, A., Pourfar, M., Volk, B. W.: Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis. Clin. Chim. Acta 28, 397–402 (1970)

    Google Scholar 

  • Gal, A. E., Brady, R. O., Hibbert, S. R., Pentchev, P. G.: A practical chromogenic procedure for the detection of homozygotes and heterozygote carriers of Niemann-Pick disease. N. Engl. J. Med. 293, 632–635 (1975)

    Google Scholar 

  • Gal, A. E., Brady, R. O., Pentchev, P. G., Furbish, F. S., Suzuki, K., Tanaka, H., Schneider, E. L.: A practical chromogenic procedure for the diagnosis of Krabbe's disease. Clin. Chim. Acta 77, 53–59 (1977)

    Google Scholar 

  • Gal, A. E., Pentchev, P. G., Fash, F. J.: A novel chromogenic substrate for assaying glucocerebrosidase activity. Proc. Soc. Exp. Biol. Med. 153, 363–366 (1976)

    Google Scholar 

  • Galjaard, H., Hoogeveen, A., Keijzer, W., Wit-Verbeek, H. A. de, Reuser, A. J. J., Ho, M. W., Robinson, D.: Genetic heterogeneity in GM1-gangliosidosis. Nature 257, 60–62 (1975)

    Google Scholar 

  • Galjaard, H., Hoogeveen, A., Wit-Verbeek, H. A. de, Reuser, A. J. J., Keijzer, A., Westeveld, A., Bootsma, D.: Tay-Sachs and Sandhoff's disease: Intergenic complementation after somatic cell hybridization. Exp. Cell Res. 87, 444–448 (1974)

    Google Scholar 

  • Gatt, S.: Magnesium-dependent sphingomyelinase. Biochem. Biophys. Res. Commun. 68, 235–241 (1976)

    Google Scholar 

  • Geiger, B., Arnon, R.: Chemical characterization and subunit structure of human N-hexosaminidases A and B. Biochemistry 15, 3484–3493 (1976)

    Google Scholar 

  • Geiger, B., Specht, B. U. von, Arnon, R.: Stabilization of human β-D-N-acetylhexosaminidase A towards proteolytic inactivation by coupling it to poly-(N-vinyl)pyrrolidone. Eur. J. Biochem. 73, 141–148 (1977)

    Google Scholar 

  • Gilbert, F., Kucherlapati, R., Creagan, R. P., Murnane, M. J., Darlington, G. J., Ruddle, F. H.: Tay-Sachs' and Sandhoff's diseases: The assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc. Natl. Acad. Sci. (USA) 72, 263–267 (1975)

    Google Scholar 

  • Goldberg, M. F., Cotlier, E., Fichenscher, L. G., Kenyon, K., Enat, R., Borowski, S. A.: Macular cherry-red spot, corneal clouding, and β-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease. Arch. Intern. Med. 128, 387–398 (1971)

    Google Scholar 

  • Goldie, W. O., Holtzman, D., Suzuki, K.: Chronic hexosaminidase A and B deficiency. Ann. Neurol. 2, 156–158 (1977)

    Google Scholar 

  • Grebner, E. E., Tucker, J.: Human urinary N-acetyl-β-D-hexosaminidases. Biochim. Biophys. Acta 321, 228–233 (1973)

    Google Scholar 

  • Greene, H., Hug, G., Schubert, W. K.: Metachromatic leukodystrophy: Treatment with arylsulfatase A. Arch. Neurol. 20, 147–153 (1969)

    Google Scholar 

  • Grimm, T., Wienker, T. F., Ropers, H. H.: Fabry's disease: Heterozygote detection by hair root analysis. Hum. Genet. 32, 329–334 (1976)

    Google Scholar 

  • Groth, C. G., Dreborg, S., Öckerman, P. A., Svennerholm, L., Hagenfeldt, L., Löfström, B., Samuelsson, K., Werner, B., Westberg, G.: Splenic transplantation in a case of Gaucher's disease. Lancet 1971I, 1260–1264

  • Hagen, C. B. van der, Børvesen, A. L., Mohre, K., Oftedal, G., Bjøro, K., Berg, K.: Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency. Clin. Genet. 4, 256–259 (1973)

    Google Scholar 

  • Handa, S., Ariga, T., Miyatake, T., Yamakawa, T.: Presence of α-anomeric glycosidic configuration in the glycolipids accumulated in kidney with Fabry's disease. J. Biochem. (Tokyo) 69, 625–627 (1971)

    Google Scholar 

  • Harzer, K.: Nachweis des Enzymdefektes und vorläufige Identifizierung der Heterozygoten in einer Familie mit M. Gaucher Typ I. Klin. Wochenschr. 52, 1177–1178 (1974)

    Google Scholar 

  • Harzer, K.: Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease). Third documented case. Hum. Genet. 35, 193–196 (1977)

    Google Scholar 

  • Harzer, K., Benz, H. U.: A simple sphingomyelinase determination for Niemann-Pick disease: Differential diagnosis of types A, B and C. J. Neurochem. 21, 999–1001 (1973)

    Google Scholar 

  • Harzer, K., Benz, H. U.: Deficiency of lactosyl sulfatide sulfatase in metachromatic leucodystrophy (sulfatidosis). Hoppe Seylers Z. Physiol. Chem. 355, 744–748 (1974)

    Google Scholar 

  • Harzer, K., Benz, H. U.: Sphingomyelinosen (niemann-Pick'sche Erkrankung). In: Handbuch der inneren Medizin, Vol. VII/4 (Fettstoffwechsel), G. Schettler, H. Greten, G. Schlierf, D. Seidel, eds., pp. 525–546. Berlin-Heidelberg-New York: Springer 1976a

    Google Scholar 

  • Harzer, K., Benz, H. U.: Gangliosidosen. In: Handbuch der inneren Medizin, Vol. VII/4 (Fettstoffwechsel), G. Schettler, H. Greten, G. Schlierf, D. Seidel, eds., pp. 613–643. Berlin-Heidelberg-New York: Springer 1976b

    Google Scholar 

  • Harzer, K., Sandhoff, K., Schall, H., Kollmann, F.: Enzymatische Untersuchungen im Blut von Überträgern einer Variante der Tay-Sachs'schen Erkrankung (Variante0). Klin. Wochenschr. 49, 1189–1191 (1971)

    Google Scholar 

  • Harzer, K., Stengel-Rutkowski, S., Gley, E. O., Albert, A., Murken, J. D., Zahn, V., Henkel, K. P.: Pränatale Diagnose der GM2-Gangliosidose Typ 2 (“Sandhoff-Jatzkewitz-Krankheit”). Dtsch. Med. Wochenschr. 100, 106–108 (1975)

    Google Scholar 

  • Harzer, K., Zahn, V., Stengel-Rutkowski, S., Gley, E. O.: Pränatale Diagnose der metachromatischen Leukodystrophie. Dtsch. Med. Wochenschr. 100, 951–953 (1975)

    Google Scholar 

  • Hayase, K., Kritchevsky, D.: Separation and comparison of isoenzymes of N-acetyl-beta-D-hexosaminidase of pregnancyserum by polyacrylamide gel electrofocusing. Clin. Chim. Acta 46, 455–464 (1973)

    Google Scholar 

  • Hers, H. G., Hoof, F. van (eds.): Lysosomes and storage disease. New York-London: Academic Press 1973

    Google Scholar 

  • Herschkowitz, N., McKhann, G. M., Saxena, S., Shooter, E. M.: Characterization of sulphatidecontaining lipoproteins in rat brain. J. Neurochem. 15, 1181–1188 (1968)

    Google Scholar 

  • Hirsch, T., Peiffer, J. von: Über histologische Methoden in der Differentialdiagnose von Leukodystrophien und Lipoidosen. Arch. Psychiatr. Nervenkr. 194, 88–104 (1955)

    Google Scholar 

  • Ho, M. W.: Identity of ‘acid’ β-glucosidase and glucocerebrosidase in human spleen. Biochemistry J. 136, 721–729 (1973)

    Google Scholar 

  • Ho, M. W., Beutler, S., Tennant, L., O'Brien, J. S.: Fabry's disease: Evidence for a physically altered α-galactosidase. Am. J. Hum. Genet. 24, 256–266 (1972)

    Google Scholar 

  • Ho, M. W., O'Brien, J. S.: Differential effect of chloride ions on β-galactosidase isoenzymes: A method for separate assay. Clin. Chim. Acta 32, 443–450 (1971)

    Google Scholar 

  • Hösli, P., Amsterdam, D., Schneck, L., Volk, B. W.: Hairroots in screening and diagnosis of Tay-Sachs disease. Lancet 1977I, 285–286

  • Holländer, H.: Der histochemische Nachweis von Schwefelsäureestern mit Trypaflavin. Histochemistry 3, 387–395 (1964)

    Google Scholar 

  • Horst, J., Kluge, F., Beyreuther, K., Gerok, W.: Gene transfer to human cells: transducing phage gene expression in GMy-gangliosidoses fibroblasts. Proc. Natl. Acad. Sci. (USA) 72, 3531–3535 (1975)

    Google Scholar 

  • Hultberg, B., Sjöblad, S., Öckermann, P. A.: 4-Methyl-umbelliferyl-β-glucosidase in cultured human fibroblasts from controls and patients with Gaucher's disease. Clin. Chim. Acta 49, 93–98 (1973a)

    Google Scholar 

  • Hultberg, B., Sjöblad, S., Öckermann, P. A.: Properties of five acid hydrolyses in human skin fibroblast cultures. Possible use in the diagnosis of inborn lysosomal disease. Acta Paediatr. Scand. 62, 474–480 (1973b)

    Google Scholar 

  • Hultberg, B., Sjöblad, S., Öckermann, P. A.: Glycosidases in human skin fibroblast cultures. α-fucosidase, α-galactosidase, α-glucosidase, β-mannosidase, N-acetyl-α-glucosaminidase. Acta Paediatr. Scand. 64, 123–131 (1975)

    Google Scholar 

  • Ikonne, J. U., Rattazzi, M. C., Desnick, R. J.: Characterization of hex S, the major residual β-hexosaminidase activity in type 0 GM2-gangliosidosis (Sandhoff-Jatzkewitz disease). Am. J. Hum. Genet. 27, 639–650 (1975)

    Google Scholar 

  • Jatzkewitz, H.: Zwei Typen von Cerebrosid-Schwefelsäureestern als sog. “Prälipode” und Speichersubstanzen bei der Leukodystrophie, Typ Scholz (metachromatische Form der diffusen Sklerose). Hoppe Seylers Z. Physiol. Chem. 311, 279–282 (1958)

    Google Scholar 

  • Jatzkewitz, H., Mehl, E.: Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML). J. Neurochem. 16, 19–28 (1969)

    Google Scholar 

  • Jatzkewitz, H., Pilz, H., Sandhoff, K.: Quantitative Bestimmungen von Gangliosiden und ihren neuraminsäurefreien Derivaten bei infantilen, juvenilen und adulten Formen der amaurotischen Idiotie und einer spätinfantilen biochemischen Sonderform. J. Neurochem. 12, 135–144 (1965)

    Google Scholar 

  • Jatzkewitz, H., Sandhoff, K.: On a biochemically special form of infantile amaurotic idiocy. Biochim. Biophys. Acta 70, 354–356 (1963)

    Google Scholar 

  • Jatzkewitz, H., Sandhoff, K.: Sphingolipidspeicherkrankheiten als Beispiel einer molekularen Neuropathologie. Arch. Psychiatr. Nervenkr. 221, 213–225 (1976)

    Google Scholar 

  • Joosten, E. M. G., Krijgsman, J.-B., Gabreëls-Festen, A. A. W., Gabreëls, F. J. M., Baars, P. E. C.: Infantile globoid cell leucodystrophy (Krabbe's disease). Neuropaediatrie 5, 191–209 (1974)

    Google Scholar 

  • Kaback, M. M., Sloan, M. R., Sonneborn, M., Herudon, R. M.: GM1-gangliosidosis type I: In utero detection and fetal manifestations. J. Pediatr. 82, 1037 (1973)

    Google Scholar 

  • Kampine, J. P., Brady, R. O., Kanfer, J. N., Feld, M., Shapiro, D.: Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood. Science 155, 86–88 (1967)

    Google Scholar 

  • Kanfer, J. N., Spielvogel, C.: Hexosaminidase activity of cultured human skin fibroblasts. Biochim. Biophys. Acta 286, 203–207 (1972a)

    Google Scholar 

  • Kanfer, J. N., Spielvogel, C.: β-galactosidase activity of human skin fibroblasts. Biochim. Biophys. Acta 289, 359–366 (1972b)

    Google Scholar 

  • Kattlove, H. E., Williams, J. C., Gaynor, E., Spivack, M., Bradley, R. M., Brady, R. O.: Gaucher cells in chronic myelocytic leukemia: an acquired abnormality. Blood 33, 379–390 (1969)

    Google Scholar 

  • Kelly, T. E., Reynolds, L. W., O'Brien, J. S.: Segregation within a family of two mutants for hexosaminidase A. Clin. Genet. 9, 540–543 (1976)

    Google Scholar 

  • Kint, J. A.: Fabry's disease: Alpha-galactosidase deficiency. Science 167, 1268–1269 (1970)

    Google Scholar 

  • Klibansky, C., Hoffmann, J., Zaizor, R., Matoth, Y.: Gaucher's disease, chronic adult type: A comparative study of glucocerebroside and methyl-umbelliferyl-glucopyranosid cleaving potency in leukocytes. Biomedicine 20, 24–30 (1974)

    Google Scholar 

  • Klibansky, C., Ossimi, Z., Matoth, Y., Pinkhas, J., Vries, A. de: Accumulation of lactosyl ceramide in leukocytes of patients with adult Gaucher's disease. Clin. Chim. Acta 72, 141–146 (1976)

    Google Scholar 

  • Kousseff, B. G., Beratis, N. G., Strauss, L., Brill, P. W., Rosenfield, R. E., Kaplan, B., Hirschhorn, K.: Fucosidosis type 2. Pediatrics 57, 205–213 (1976)

    Google Scholar 

  • Kraus-Ruppert, R., Wildbolz, A., Matthieu, J. M., Herschkowitz, N.: The late form of metachromatic leukodystrophy. I. A histochemical and neurochemical study. J. Neurol. Sci. 17, 373–381 (1972)

    Google Scholar 

  • Langenbeck, U., Duncker, P., Heipertz, R., Pilz, H.: Inheritance of metachromatic leukodystrophy. Am. J. Hum. Genet. 29, 639–640 (1977)

    Google Scholar 

  • Leroy, J. G., Elsen, A. F. van, Martin, J. J., Dumon, J. E., Hulet, A. E., Okada, S., Navarro, C.: Infantile metachromatic leukodystrophy: Confirmation of prenatal diagnosis. N. Engl. J. Med. 288, 1365–1369 (1973)

    Google Scholar 

  • Lott, I. T., Dulaney, J. T., Milunski, A., Hoefnagel, D., Moser, H. W.: Apparant biochemical homozygosity in 2 obligatory heterozygotes for metachromatic leukodystrophy. J. Pediatr. 89, 438–440 (1976)

    Google Scholar 

  • Lowden, J. H., Cutz, E., Conen, P. E., Rudd, N., Doran, T. A.: Prenatal diagnosis of GM1-gangliosidosis. N. Engl. J. Med. 288, 225–228 (1973)

    Google Scholar 

  • Lowden, J. H., LaRamée, M. A.: Problems in prenatal diagnosis using sphingolipid hydrolase assays. Adv. Exp. Med. Biol. 19, 257–267 (1972)

    Google Scholar 

  • MacLeod, P. M., Wood, S., Jan, J. E., Applegarth, D. A., Dolman, C. L.: Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease, Neurology (Minneap.) 6, 571–573 (1977)

    Google Scholar 

  • Max, S. R., MacLaren, N. K., Brady, R. O., Bradley, R. M., Rennels, M. B., Tanaka, J., Garcia, J. H., Cornblath, M.: GM3 (hematoside) sphingolipodystrophy. N. Engl. J. Med. 291, 929–931 (1974)

    Google Scholar 

  • Mehl, E., Jatzkewitz, H.: Eine Cerebrosidsulfatase aus Schweinenieren. Hoppe Seylers Z. Physiol. Chem. 339, 260–276 (1964)

    Google Scholar 

  • Mehl, E., Jatzkewitz, H.: Evidence for the genetic block in metachromatic leucodystrophy (ML). Biochem. Biophys. Res. Commun. 19, 407–411 (1965)

    Google Scholar 

  • Meier, C., Bischoff, A.: Sequence of morphological alterations in the nervous system of metachromatic leucodystrophy. Light-and electronmicroscopic observations in the, central and peripheral nervous system in a prenatally diagnosed foetus of 22-weeks. Acta Neuropathol. (Berl.) 36, 369–379 (1976)

    Google Scholar 

  • Menkes, J. H., O'Brien, J. S., Okada, S., Grippo, J. M., Cancilla, P. A.: Juvenile GM2-gangliosidosis. Biochemical and ultrastructural studies on a new variant of Tay-Sachs disease. Arch. Neurol. 25, 14–22 (1971)

    Google Scholar 

  • Miyatake, T., Suzuki, K.: Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase. Biochem. Biophys. Res. Commun. 48, 538–543 (1972)

    Google Scholar 

  • Molzer, B., Bernheimer, H.: Detection of GM2-gangliosidosis (Tay-Sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay. Clin. Chim. Acta 73, 163–170 (1976)

    Google Scholar 

  • Moser, H. W.: Sulfatide Lipidosis: metachromatic leukodystrophy. In: The metabolic basis of inherited disease. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, eds., 3rd ed., pp. 688–729. New York: McGraw-Hill 1972

    Google Scholar 

  • Moser, H., Sugita, M., Harbison, M. D., Williams, M.: Liver glycolipids, steroid sulfates and steroid sulfatases in a form of metachromatic leukodystrophy associated with multiple sulfatase deficiencies. Adv. Exp. Med. Biol. 19, 429–450 (1972)

    Google Scholar 

  • Navon, R., Geiger, B., Ben Yoseph, Y., Rattazzi, M. C.: Low levels of hexosaminidase A in healthy individuals with apparent deficiency of this enzyme. Am. J. Hum. Genet. 28, 339–349 (1976)

    Google Scholar 

  • Navon, R., Padeh, B.: Urinary test for identification of Tay-Sachs genotypes. J. Pediatr. 80, 1026–1029 (1972)

    Google Scholar 

  • Neufeld, E., Lim, T. W., Shapiro, L. J.: Inherited disorders of lysosomal metabolism. Ann. Rev. Biochem. 44, 357–376 (1975)

    Google Scholar 

  • O'Brien, J. S.: Molecular genetics of GMI β-galactosidase. Clin. Genet. 8, 303–313 (1975)

    Google Scholar 

  • O'Brien, J. S., Gugler, E., Giedion, A., Wiesmann, U., Herschkowitz, N., Meier, C., Leroy, J.: Spondylo-epiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency. Clin. Genet. 9, 495–504 (1976)

    Google Scholar 

  • O'Brien, J. C., Norden, A. G. W.: Nature of the mutation in adult β-galactosidase deficient patients. Am. J. Hum. Genet. 29, 184–190 (1977)

    Google Scholar 

  • O'Brien, J. S., Norden, A. G. W., Miller, A. L., Frost, R. L. G., Kelly, T. E.: Ganglioside GM2 N-acetyl-β-D-galactosaminidase; studies in human skin fibroblasts. Clin. Genet. 11, 171–183 (1977)

    Google Scholar 

  • O'Brien, J. S., Okada, S., Chen, A., Fillerup, D. L.: Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N. Engl. J. Med. 283, 15–20 (1970)

    Google Scholar 

  • O'Brien, J. S., Okada, S., Fillerup, D. L., Veath, M. L., Adornato, B., Brenner, P. H., Leroy, J. G.: Tay-Sachs disease: Prenatal diagnosis. Science 172, 61–64 (1971)

    Google Scholar 

  • O'Brien, J. S., Stern, M. B., Landing, B. H., O'Brien, J. K., Donnell, G. N.: Generalized gangliosidosis. Another inborn error of ganglioside metabolism. Am. J. Dis. Child. 109, 338–346 (1965)

    Google Scholar 

  • Öckerman, P. A.: Identity of β-glucosidase, β-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-β-D-glycosides. Studies in cases of Gaucher's disease. Biochim. Biophys. Acta 165, 59–62 (1968)

    Google Scholar 

  • Öckerman, P. A., Köhlin, P.: Tissue acid hydrolase activities in Gaucher's disease. Scand. J. Clin. Lab. Invest. 22, 62–64 (1968)

    Google Scholar 

  • Okada, S., O'Brien, J. S.: Generalized gangliosidosis: Beta-galactosidase deficiency. Science 160, 1002–1004 (1968)

    Google Scholar 

  • Okada, S., O'Brien, J. S.: Tay-Sachs disease: Generalized absence of a beta-D-N-acetyl-hexosaminidase component. Science 165, 698–700 (1969)

    Google Scholar 

  • Okada, S., Veath, M. L., O'Brien, J. S.: Juvenile GM2-gangliosidosis: Partial deficiency of hexosaminidase A. J. Pediatr. 77, 1063–1067 (1970)

    Google Scholar 

  • Orii, T., Sukegawa, K., Kudoh, T., Horino, K., Nakao, T.: Three GM1-gangliosidoses and a variant of β-galactosidase deficiency. Tohoku J. Exp. Med. 117, 197–198 (1975)

    Google Scholar 

  • Oshima, M.: Identification of glucosyl sphingosine from Gaucher's spleen by gas chromatography-electron impact and GC-chemical ionization mass spectrometry. J. Biochem. 80, 53–59 (1976)

    Google Scholar 

  • Padeh, B., Navon, R.: Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells. Isr. J. Med. Sci. 7, 259–264 (1971)

    Google Scholar 

  • Patrick, D. A.: A deficiency of glucocerebrosidase in Gaucher's disease. Biochemistry J. 97, 17c-18c (1965)

    Google Scholar 

  • Peters, S. P., Coyle, P., Glew, R. H.: Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate. Arch. Biochem. Biophys. 175, 569–582 (1976)

    Google Scholar 

  • Philippart, M., Franklin, S. S., Gordon, A.: Reversal of an inborn sphingolipidosis by kidney transplantation. Ann. Intern. Med. 77, 195–200 (1972)

    Google Scholar 

  • Pilz, H.: Clinical, morphological and biochemical aspects of sphingolipidoses. Neuropaediatrie 1, 383–427 (1970)

    Google Scholar 

  • Pilz, H.: Niemann-Pick'sche Krankheit im Erwachsenenalter. Lipidanalysen der Körperogane und des Gehirns von Autopsie-bzw. Biopsiematerial bei 2 Fällen. Dtsch. Med. Wochenschr. 95, 1905–1910 (1970)

    Google Scholar 

  • Pilz, H.: Metachromatische Leukodystrophie (Sulfatid-Lipidose). In: Handbuch der inneren Medizin, Vol. VII/4 (Fettstoffwechsel), 5th ed., G. Schettler, H. Greten, G. Schlierf, D. Seidel, eds., pp. 565–595. Berlin-Heidelberg-New York: Springer 1976

    Google Scholar 

  • Pilz, H., Duensing, J., Heipertz, R., Seidel, D., Hopf, H. C., Lowitzsch, G., Goebel, H. H.: Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state. Eur. Neurol. 15, 301–307 (1977)

    Google Scholar 

  • Pilz, H., Heipertz, R.: Differentialdiagnose angeborener Lipidosen durch Lipidanalysen von Körperflüssigkeiten, Biopsie-und Autopsiegewebe. Fortschr. Neurol. Psychiat. 43, 602–617 (1975)

    Google Scholar 

  • Pilz, H., Heipertz, R., Seidel, D.: Klinische, präklinische und pränatale Diagnose angeborener Sphingolipidosen durch Bestimmung lysosomaler Hydrolasen. Fortschr. Neurol. Psychiatr. (in press, 1977)

  • Pilz, H., Linke, I., Käckell, M. Y., Haller, J., Lenard, H. G.: Pränatale genetische Diagnose in einer Familie mit Tay-Sachs'scher Krankheit (Enzymvariante B). Dtsch. Med. Wochenschr. 99, 578–580 (1974)

    Google Scholar 

  • Pilz, H., Müller, D.: Studies on adult metachromatic leukodystrophy. II. Biochemical aspects of adult cases of metachromatic leukodystrophy. J. Neurol. Sci. 9, 585–595 (1969)

    Google Scholar 

  • Pilz, H., Müller, D., Linke, I.: Histochemical and biochemical studies of urinary lipids in metachromatic chromatic leukodystrophy and Fabry's disease. J. Lab. Clin. Med. 81, 7–21 (1973)

    Google Scholar 

  • Pilz, H., Müller, D., Sandhoff, K., ter Meulen, V.: Tay-Sachs'sche Krankheit mit Hexosaminidase-Defekt. Klinische, morphologische und biochemische Befunde bei einem Fall mit viszeraler Speicherung von Nierenglobosis. Dtsch. Med. Wochenschr. 93, 1833–1839 (1968)

    Google Scholar 

  • Pilz, H., Sandhoff, K., Jatzkewitz, H.: Eine Gangliosidstoffwechselstörung mit Anhäufung von Ceramid-lactosid, Monosialoceramid-lactosid und Tay-Sachs-Gangliosid im Gehirn. J. Neurochem. 13, 1273–1282 (1966)

    Google Scholar 

  • Pilz, H., Volles, E., Paul, H. A., Denden, A.: Neurologische Symptome bei Fabry'scher Krankheit (Angiokeratoma corporis diffusum). Mitteilung eines Falles mit neuromuskulären Störungen. Literaturübersicht. Z. Neurol. 202, 307–322 (1972)

    Google Scholar 

  • Porter, M. T., Fluharty, A. L., Kihara, H.: Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts. Science 172, 1263–1265 (1971)

    Google Scholar 

  • Prensky, A. L., Ferreina, L., Carr, G., Moser, H. W.: Ceramide and ganglioside accumulation in Farber's lipogranulomatosis. Proc. Soc. Exp. Biol. Med. 126, 725–728 (1967)

    Google Scholar 

  • Rapin, I., Suzuki, K., Suzuki, K.: Adult (chronic) GM2-gangliosidosis. Arch. Neurol. (Chic.) 33, 120–130 (1976)

    Google Scholar 

  • Rhagavan, S. S., Mumford, R. A., Kanfer, J. N.: Isolation and characterization of glucosylsphingosine from Gaucher's spleen. J. Lipid Res. 15, 484–490 (1974)

    Google Scholar 

  • Rietra, P. J. G. M., Tager, J. M., de Groot, W. P.: Detection of Fabry hemizygotes and heterozygotes by measurement of α-galactosidase in urine. Clin. Chim. Acta 40, 229–236 (1972)

    Google Scholar 

  • Ropers, H. H., Schwantes, U.: On the molecular basis of Sandhoff's disease. Humangenetik 20, 167–170 (1973)

    Google Scholar 

  • Rouser, G., Kritchevsky, V., Yamamoto, A., Knudson, A. G., Simon, G.: Accumulation of a glycerolphospholipid in classical Niemann- Pick disease. Lipids 3, 287–290 (1968)

    Google Scholar 

  • Saifer, A., Amoroso, J., Perle, G.: Urinary hexosaminidase analysis for the identification of Tay-Sachs genotypes. Clin. Chim. Acta 67, 315–319 (1976)

    Google Scholar 

  • Saifer, A., Rosenthal, A. L.: Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay. Clin. Chim. Acta 43, 417–422 (1973)

    Google Scholar 

  • Sandhoff, K.: Auftrennung der Säuger-N-Acetyl-β-D-hexosaminidase in multiple Formen durch Elektrofokussierung. Hoppe Seylers Z. Physiol. Chem. 349, 1095–1098 (1968)

    Google Scholar 

  • Sandhoff, K.: Variation of β-N-acetylhexosaminidase-pattern in Tay-Sachs disease. FEBS Lett. 4, 351–354 (1969)

    Google Scholar 

  • Sandhoff, K.: The hydrolysis of Tay-Sachs ganglioside (TSG) by human N-acetyl-β-D-hexosaminidase A.. FEBS Lett. 11, 342–344 (1972)

    Google Scholar 

  • Sandhoff, K.: Biochemie der Sphingolipidspeicherkrankheiten. Angew. Chem. (Engl.) 89, 283–295 (1977)

    Google Scholar 

  • Sandhoff, K., Andreae, K., Jatzkewitz, H.: Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Pathol. Eur. 3, 278–285 (1968)

    Google Scholar 

  • Sandhoff, K., Harzer, K., Wässle, W., Jatzkewitz, H.: Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J. Neurochem. 18, 2469–2489 (1971)

    Google Scholar 

  • Sandhoff, K., Wässle, W.: Anreicherung und Charakterisierung zweier Formen der menschlichen N-Acetyl-β-D-hexosaminidase. Hoppe Seylers Z. Physiol. Chem. 352, 1119–1133 (1971)

    Google Scholar 

  • Schibanoff, J. M., Komoshita, S., O'Brien, J. S.: Tissue distribution of glycosphingolipids in a case of Fabry's disease. J. Lipid Res. 10, 515–520 (1969)

    Google Scholar 

  • Schneck, L., Friedland, J., Valentin, C., Adachi, M., Amsterdam, D., Volk, B. W.: Prenatal diagnosis of Tay-Sachs disease. Lancet 1970 I, 582

  • Schneider, E. L., Ellis, W. G., Brady, R. O., Culloch, J. R., Epstein, C. J.: Prenatal Niemann-Pick disease: Biochemical and histologic examination of a 19-gestational week fetus. Pediatr. Res. 6, 720–729 (1972)

    Google Scholar 

  • Schneider, P. B., Kennedy, E. P.: Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. J. Lipid Res. 8, 202–209 (1967)

    Google Scholar 

  • Schocket, S. S., McCormick, W. F., Powell, G. F.: Krabbe's disease. A light and electron microscopic study. Acta Neuropathol. (Berl.) 36, 153–160 (1976)

    Google Scholar 

  • Seng, P. N., Debuch, H., Witter, B., Wiedemann, H. R.: Bis (monoacylglycerin) phosphorsäure-Vermehrung bei Sphingomyelinose (M. Niemann-Pick?). Hoppe Seylers Z. Physiol. Chem. 352, 280–288 (1971)

    Google Scholar 

  • Sengers, R. C. A., Lamers, K. J. B., Bakkeren, J. A. J. M., Schretlen, E. D. A. M., Trijbels, J. M. F.: Infantile Gaucher's disease: Glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts. Neuropaediatrie 6, 377–382 (1975)

    Google Scholar 

  • Singer, H. S., Schafer, I. A.: Clinical and enzymatic variations in GM1 generalized gangliosidosis. Am. J. Hum. Genet. 24, 454–463 (1972)

    Google Scholar 

  • Singer, J. D., Cotlier, E., Krimmer, R.: Hexosaminidase A in tears and saliva for rapid identification of Tay-Sachs disease and its carriers. Lancet 1973II, 1116–1119

  • Sloan, H. R., Uhlendorf, B. W., Kanfer, J. N., Brady, R. O., Fredrickson, D. S.: Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem. Biophys. Res. Commun. 34, 582–588 (1969)

    Google Scholar 

  • Snyder, P. D., Wold, F., Bernlohr, R. W., Dullum, C., Desnick, R. J., Krivit, W., Condie, R. M.: Enzyme therapy II. Purified human α-galactosidase A: Stabilization to heat and protease degradation by complexing with antibody and by chemical modification. Biochim. Biophys. Acta 350, 432–436 (1974)

    Google Scholar 

  • Snyder, R. A., Brady, R. O.: The use of white cells as a source of diagnostic material for lipid storage diseases. Clin. Chim. Acta 25, 331–338 (1969)

    Google Scholar 

  • Spence, M. W., Goldbloom, A. L., Burgers, J. K., D'Entremont, D., Ripley, B. A., Weldon, K. L.: Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on Plasma, leucocytes, and hair follicles. J. Med. Genet. 14, 91–99 (1977)

    Google Scholar 

  • Spence, M. W., Ripley, B. A., Embil, J. A., Tibbles, J. A. R.: A new variant of Sandhoff's disease. Pediatr. Res. 8, 628–637 (1974)

    Google Scholar 

  • Stevens, R. L., Fluharty, A. L., Killgrove, A. R., Kihara, H.: Microheterogeneity of arylsulfatase A from human tissues. Biochim. Biophys. Acta 445, 661–671 (1976)

    Google Scholar 

  • Stinshoff, K., Jatzkewitz, H.: Comparison of the cerebroside sulphatase and the aryl-sulphatase activity of human sulphatase A in the absence of activators. Biochim. Biophys. Acta 377, 126–138 (1975)

    Google Scholar 

  • Stirling, J. L.: Separation and characterization of N-acetyl-β-glucosaminidases A and P from maternal serum. Biochim. Biophys. Acta 271, 154–162 (1972)

    Google Scholar 

  • Stumpf, D., Neuwelt, E., Austin, J., Kohler, P.: Metachromatic leukodystrophy (MLD). X. Immunological studies of the abnormal sulfatase A. Arch. Neurol. 25, 427–431 (1971)

    Google Scholar 

  • Sugita, M., Dulaney, J. T., Moser, H. W.: Ceramidase deficiency in Farber's disease. Science 178, 1100–1101 (1972)

    Google Scholar 

  • Sugita, M., Iwamori, M., Evans, J., McCluer, R. H., Dulaney, J. T., Moser, H. W.: High performance liquid chromatography of ceramides: Application to analysis in human tissues and demonstration of ceramide excess in Farber's disease. J. Lipid Res. 15, 223–226 (1974)

    Google Scholar 

  • Sugita, M., Willimas, M., Dulaney, J. T., Moser, H. W.: Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase. Biochim. Biophys. Acta 398, 125–131 (1975)

    Google Scholar 

  • Suzuki, K., Schneider, E. L., Epstein, C. J.: In utero diagnosis of globoid cell leukodystrophy (Krabbe's disease). Biochem. Biophys. Res. Commun. 45, 1363–1367 (1971)

    Google Scholar 

  • Suzuki, K., Suzuki, K., Kamoshita, S.: Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis). J. Neuropathol. Exp. Neurol. 28, 25–73 (1969)

    Google Scholar 

  • Suzuki, K., Suzuki, Y.: Globoid cell leukodystrophy (Krabbe's disease): Deficiency of galactocerebroside-β-galactosidase. Proc. Natl. Acad. Sci. (USA) 66, 302–309 (1970)

    Google Scholar 

  • Suzuki, K., Suzuki, Y.: Galactosyl ceramide lipidosis: Globoid cell leucodystrophy (Krabbe's disease). In: The metabolic basis of inherited disease, J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, eds., 3rd ed., pp. 760–782. New York: McGraw-Hill 1972

    Google Scholar 

  • Suzuki, Y., Berman, P. B., Suzuki, K.: Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes. J. Pediatr. 78, 643–647 (1971)

    Google Scholar 

  • Suzuki, Y., Mizuno, Y.: Juvenile metachromatic leukodystrophy—deficiency of an arylsulfatase A component. J. Pediatr. 85, 823–825 (1974)

    Google Scholar 

  • Suzuki, Y., Nakamura, N., Shimada, Y., Yotsumoto, H., Endo, H., Nagashina, K.: Macular cherry-red spots and β-galactosidase deficiency in an adult. Arch. Neurol 34, 157–161 (1977)

    Google Scholar 

  • Suzuki, Y., Suzuki, K.: Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis. Neurology (Minneap.) 20, 848–851 (1970)

    Google Scholar 

  • Suzuki, Y., Suzuki, K.: Krabbe's globoid cell leukodystrophy: Deficiency of galactocerebrosidase in serum, leukocytes and fibroblasts. Science 171, 73–75 (1971)

    Google Scholar 

  • Svennerholm, L.: Chromatographic separation of human brain gangliosides. J. Neurochem. 10, 613–623 (1963)

    Google Scholar 

  • Svennerholm, L.: The metabolism of gangliosides in cerebral lipidoses. In: Inborn disorders of sphingolipid metabolism. S. M. Aronson, B. W. Volk, eds., p. 169. Oxford: Pergamon Press 1967

    Google Scholar 

  • Svennerholm, L.: Molecular neuropathology. In: Perspectives in brain research. Progr. in Brain Res., Vol. 45, M. A. Corner, D. F. Swaab, eds., pp. 101–121. Amsterdam: Elsevier Biomed. Press 1976

    Google Scholar 

  • Svennerholm, L., Hakansson, G., Vanier, M. T.: Chemical pathology of Krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide β-galactosidases in brain, white blood cells and amniotic fluid cells. Acta Paediatr. Scand. 64, 649–656 (1975)

    Google Scholar 

  • Sweeley, C. C., Klionsky, B.: Fabry's disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem. 238, 3148–3150 (1963)

    Google Scholar 

  • Tallman, J. F.: Pentchev, P. G., Brady, R. O.: An enzymological approach to the lipidoses. Enzyme 18, 136–149 (1974)

    Google Scholar 

  • Tanaka, J., Garcia, J. H., Max, S. R., Viloria, J. E., Kamjyo, Y., MacLaren, N. K., Cornblath, M., Brady, R. O: Cerebral sponginess and GM3-gangliosidosis: Ultrastructure and probable pathogenesis. J. Neuropathol. Exp. Neurol. 34, 249–262 (1975)

    Google Scholar 

  • Terry, R. D., Korey, S. R.: Membranous cytoplasmic granules in infantile amaurotic idiocy. Nature 188, 1000–1002 (1960)

    Google Scholar 

  • Thomas, G. H.: β-D-Galactosidase in human urine. Deficiency in generalized gangliosidosis. J. Lab. Clin. Med. 74, 725–731 (1969)

    Google Scholar 

  • Ulrich, J.: Die cerebralen Entmarkungskrankheiten im Kindesalter. Berlin-Heidelberg-New York: Springer 1971

    Google Scholar 

  • Vance, D. E., Krivit, W., Sweely, C.: Concentrations of glycosyl ceramides in plasma and red cells in Fabry's disease, a glycolipid lipidosis. J. Lipid. Res. 8, 188–192 (1969)

    Google Scholar 

  • Van-Cong, N., Weil, D., Rebourcet, R., Frezal, J.: A study of hexosaminidases in interspecific hybrids and in GM2-gangliosidosis with a discussion on their genetic control. Ann. Hum. Genet. 39, 111–123 (1975)

    Google Scholar 

  • Vanier, M. T., Svennerholm, L.: Chemical pathology of Krabbe's disease. I. Lipid composition and fatty acid patterns of phosphoglycerides in brain. Acta Paediatr. Scand. 63, 494–500 (1974a)

    Google Scholar 

  • Vanier, M. T., Svennerholm, L.: Chemical pathology of Krabbe's disease. II. Fatty acid composition of cerebrosides, sulfatides and sphingomyelins in brain. Acta Paediatr. Scand. 63, 501–506 (1974b)

    Google Scholar 

  • Vanier, M. T., Svennerholm, L.: Chemical pathology of Krabbe's disease. III. Ceramidehexosides and gangliosides of brain. Acta Paediatr. Scand. 64, 641–648 (1975)

    Google Scholar 

  • Vidgoff, J., Buist, N. R. M., O'Brien, J. S.: Absence of β-N-acetyl-D-hexosaminidase A activity in a healthy woman. Am. J. Hum. Genet. 25, 372–381 (1973)

    Google Scholar 

  • Wenger, D. A., Goodman, S. I., Myers, G. G.: Beta-galactosidase deficiency in young adults. Lancet 1974II, 1319–1320

  • Wenger, D. A., Riccardi, V. M.: Possible misdiagnosis of Krabbe's disease. J. Pediatr. 88, 76–78 (1976)

    Google Scholar 

  • Wenger, D. A., Sattler, M., Clark, C., McKelvey, H.: An improved method for the identification of patients and carriers of Krabbe's disease. Clin. Chim. Acta 56, 199–206 (1974b)

    Google Scholar 

  • Wenger, D. A., Sattler, M., Clark, C., Tanaka, H., Suzuki, K., Dawson, G.: Lactosyl ceramidosis: Normal activity for two lactosyl ceramide β-galactosidases. Science 188, 1310–1312 (1975)

    Google Scholar 

  • Wenger, D. A., Sattler, M., Markey, S. P.: Deficiency of monogalactosyl diglyceride β-galactosidase activity in Krabbe's disease. Biochem. Biophys. Res. Commun. 53, 680–685 (1973)

    Google Scholar 

  • Wherrett, J. R., Hakomori, S.: Characterization of a blood group B glycolipid, accumulating in the pancreas of a patient with Fabry's disease. J. Biol. Chem. 218, 3046–3051 (1973)

    Google Scholar 

  • Wiegandt, H.: The subcellular localization of gangliosides in the brain. J. Neurochem. 14, 671–674 (1967)

    Google Scholar 

  • Wiesmann, U. N., Meier, C., Spycher, M. A., Schmid, W., Bischoff, A., Gautier, E., Herschkowitz, N. N.: Prenatal metachromatic leucodystrophy. Helv. Paediatr. Acta 30, 31–42 (1975)

    Google Scholar 

  • Wiesmann, U. N., Rossi, E. E., Herschkowitz, N. N.: Correction of the defective sulfatide degradation in cultured fibroblasts from patients with metachromatic leucodystrophy. Acta Paediatr. Scand. 61, 296–302 (1972)

    Google Scholar 

  • Wolfe, L. S., Senior, R. G., Ng Ying Kin, N. M.: The structures of oligosaccharides accumulating in the liver of GM1-gangliosidosis, type I. J. Biol. Chem. 249, 1828–1838 (1974)

    Google Scholar 

  • Wood, S., MacDougall: Juvenile Sandhoff disease: Some properties of the residual hexosaminidase in cultured fibroblasts. Am. J. Hum. Genet. 28, 489–495 (1976)

    Google Scholar 

  • Wood, S., Nadler, H. L.: Fabry's disease: Absence of an α-galactosidase isozyme. Am. J. Hum. Genet. 24, 250–255 (1972)

    Google Scholar 

  • Yamamoto, A., Adachi, S., Kawamura, S., Takahashi, M., Kitani, T., Ohtori, T., Shinji, Y., Nishikawa, M.: Localized β-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry red spot—A new variant of GM1-gangliosidosis? Arch. Intern. Med. 134, 627–634 (1974)

    Google Scholar 

  • Young, E. P., Ellis, R. B., Patrick, A. D.: Leukocyte β-galactosidase activity in GM1-gangliosidosis. Pediatrics 50, 502–509 (1972)

    Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, University of Hamburg, Martinistraße 52, D-2000, Hamburg, Federal Republic of Germany

    H. Pilz, R. Heipertz & D. Seidel

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  1. H. Pilz
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  2. R. Heipertz
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  3. D. Seidel
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Additional information

Based on a report given at the Fifteenth Meeting of the German Society of Anthropology and Human Genetics in Hamburg, 1977

Professor Pilz died tragically on March 27, 1978

This study was supported by the Deutsche Forschungsgemeinschaft (Sonderforschungsbereich 33 “Nervensystem und biologische Information”)

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Pilz, H., Heipertz, R. & Seidel, D. Basic findings and current developments in sphingolipidoses. Hum Genet 47, 113–134 (1979). https://doi.org/10.1007/BF00273194

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  • DOI: https://doi.org/10.1007/BF00273194

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