Presymptomatic diagnosis: metachromatic leukodystrophy or pseudo arylsulphatase A deficiency?
Diagnosis of metachromatic leukodystrophy (MLD) was established in the proband at age 27 months. An examination of the family arylsulphatase A profile revealed that the father and younger sibling, age 2 months, had very low enzyme activities like the proband. The father, in all likelihood, had the pseudo arylsulphatase A deficiency trait, but the sibling could be either pseudodeficient or affected with MLD. The fibroblast cerebroside sulphate loading test confirmed that the father had pseudo arylsulphatase A deficiency. The test also indicated that the sibling was affected with MLD. This was confirmed by clinical evidence of neurological degeneration by 18 months.
D002553:Cerebroside-Sulfatase / Q000097:blood / Q000172:deficiency* / Q000652:urine; D002554:Cerebrosides; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D013429:Sulfatases / Q000172:deficiency*; D013997:Time Factors
D002554:Cerebrosides; D013429:Sulfatases; D002553:Cerebroside-Sulfatase