Summary
A sample of 38 clinically unaffected carriers for various lipidoses and their noncarrier relatives was studied with biochemical, psychological, and neuropsychological tests under blind conditions. The largest group of carriers was that for metachromatic leucodystrophy (MLD). The mean activity of arylsulphatase A or cerebroside sulphatase in the obligate carriers was 25%–30% of the control values, some heterozygotes showing little more activity than MLD patients. It was found that compared with the controls all heterozygotes (both obligate and facultative) differ unfavourably in some personality traits and in WISA subtests, including capacity for spatial cognition. These differences are especially obvious in a group of seven MLD carriers from the same family.
With respect to reaction times, performance was significantly slower in MLD carriers, and particularly in those with enzyme activity lower than 30% of the control values.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Batshaw, M. L., Roan, Y., Jung, A. L., Rosenberg, L. A., Brusilow, S. W.: Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N. Engl. J. Med. 302, 482–485 (1980)
Beaudet, A. L., Lipson, M. H., Ferry, G. D., Nichols, B. L.: Acid lipase in cultured fibroblasts: Cholesterol ester storage disease. J. Lab. Clin. Med. 84, 54–61 (1974)
Christomanou, H., Sandhoff, K.: Variation of arylsulphatase A: Comparative studies of arylsulphatase A with synthetic and natural substrates in three families with metachromatic leucodystrophy. Neuropaediatrie 9, 385–395 (1978)
Christomanou, H., Čáp, C., Sandhoff, K.: Isoelectric focussing pattern of acid hydrolases in cultured fibroblasts, leucocytes and cell-free amniotic fluid. Neuropaediatrie 8, 238–252 (1977)
Diebold, K., Häfner, H., Vogel, F., Schalt, E.: Die myoklonischen Varianten der familiären amaurotischen Idiotie. Humangenetik 5, 119–164 (1968)
Dubois, G., Turpin, J.-C., Baumann, N.: Absence of ASA activity in the healthy father of a patient with metachromatic leukodystrophy. N. Engl. J. Med. 293, 302 (1975)
Dubois, G., Harzer, K., Baumann, N.: Very low arylsulphatase A and cerebroside sulfatase activities in leukocytes of healthy members of a metachromatic leukodystrophy family. Am. J. Hum. Genet. 29, 191–194 (1977a)
Dubois, G., Turpin, J. C., Baumann, N.: Metachromatic leukodystrophy and arylsulphatase A—Relations and discrepancies. Biomedicine 26, 317–318 (1977b)
Kampine, J. P., Brady, R. O., Kanfer, J. N.: Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood. Science 155, 86 (1967)
Lott, I. T., Dulancy, J. T., Milunsky, A., Hoefnagel, D., Moser, H. W.: Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J. Pediatr. 89, 438–440 (1976)
Lowry, O. H., Rosebrough, N. J., Farr, A. L., Randall, R. J.: Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193, 265–272 (1951)
Manowitz, P., Kohn, H., Miller, M.: Neuropsychological findings in siblings and parents of patients with metachromatic leukodystrophy. Abstracts of the Congress of the International Neuropsychological Society, Oxford, 1977
Manowitz, P., Kling, A., Kohn, H.: Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. J. Nerv. Ment. Dis. 166, 500–506 (1978)
Martinius, J.: Programmed neuropsychological testing of learning problems. Neuropaediatrie 8 [Suppl.], 542 (1977)
Martinius, J., Zucker, H., Mayer, F. X.: Programmiertes neuropsychologisches Testen bei leistungsgestörten Kindern. In: Teilleistungsstörungen im Kindesalter, Lempp, R. (Hrsg.). Bern-Stuttgart-Wien: Huber 1979
Sandhoff, K., Christomanou, H.: Biochemistry and genetics of gangliosidoses. Hum. Genet. 50, 107–143 (1979)
Schwarzmann, G.: A simple and novel method for tritium labeling of gangliosides and other sphingolipids. Biochim. Biophys. Acta 529, 106–114 (1978)
Thalhammer, O., Havelec, L., Knoll, E., Wehle, E.: Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Hum. Genet. 38, 285–288 (1977)
Thalhammer, O., Lubec, G., Königshofer, H.: Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Hum. Genet. 49, 333–336 (1979)
Thalhammer, O., Pollak, A., Lubec, G., Königshofer, H.: Intracellular concentrations of phenylalanine, tyrosine, and α-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals. Hum. Genet. 54, 213–216 (1980)
Vogel, F., Motulsky, A. G.: Human genetics—Problems and approaches. Heidelberg: Springer 1979
Williamson, M., Koch, R., Bessman, S. P., Layne, E. C.: The relation between heterozygosity and IQ in phenylketonuria. Pediatr. Res. 10, 373 (1976)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Christomanou, H., Martinius, J., Jaffé, S. et al. Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses. Hum. Genet. 55, 103–110 (1980). https://doi.org/10.1007/BF00329134
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00329134