ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary The variant α-L-fucosidase genotype, phenotypically observed as a low plasma level of α-L-fucosidase in healthy individuals, can modify the plasma expression of the primary genetic defect in mucolipidosis III. Three patients with clinical, radiological, and biochemical features of mucolipidosis III, had a normal plasma level of α-L-fucosidase activity. The thermostability curves for the plasma α-L-fucosidase from these patients and the plasma α-L-fucosidase of the parents of one of them, are discussed to support the suggestion that they are homozygous for the autosomal recessive variant α-L-fucosidase trait. From a practical point of view, these observation warn against the use of the plasma α-L-fucosidase assay as a screening test for mucolipidoses.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00389462
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