Adrenoleukodystrophy and beta-galactosidase deficiency: patient and carrier.
A patient with adrenoleukodystrophy and his mother, a carrier, showed an elevated ratio of very long-chain fatty acids to long-chain fatty acids and decreased beta-galactosidase activity. Other lysosomal enzyme activities were normal except for the borderline level of arylsulfatase-A activity. However, the father and other patients with variant forms of adrenoleukodystrophy showed normal beta-galactosidase and other lysosomal enzyme activities.
D000326:Adrenoleukodystrophy / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005260:Female; D005696:Galactosidases / Q000172:deficiency*; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D001616:beta-Galactosidase / Q000172:deficiency*
D005696:Galactosidases; D001616:beta-Galactosidase