A thermolabile variant of alpha-L-fucosidase--clinical and laboratory findings.
A family with two sibs affected clinically with the severe infantile form of fucosidosis is described. Biochemical studies revealed a relatively high residual activity (34-60% of normal) with markedly decreased thermostability. The importance of including thin layer chromatography for urinary oligosaccharides in the diagnostic workup for such patients is emphasized.
D002855:Chromatography, Thin Layer; D005347:Fibroblasts / Q000201:enzymology; D005645:Fucosidosis / Q000201:enzymology / Q000235:genetics*; D006358:Hot Temperature; D006801:Humans; D007223:Infant; D007700:Kinetics; D008297:Male; D005644:alpha-L-Fucosidase / Q000235:genetics* / Q000378:metabolism
D005644:alpha-L-Fucosidase