Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

doi:10.1093/hmg/7.8.1215

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Article

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

Human molecular genetics - 1 Aug 1998

Harvey J S, Carey W F, Morris C P

Abstract excerpt

Metachromatic leukodystrophy (MLD) is an inborn error of myelin metabolism caused by a deficiency of the lysosomal hydrolase, arylsulfatase A (ASA). About 1% of the normal population have ASA activity levels approximating those of MLD patients. This non-pathogenic reduction in ASA activity is cau...

Topics

Adenosine Monophosphate
Alleles
Amino Acid Substitution
Cerebroside-Sulfatase
Glycosylation
Homozygote
Humans
Leukodystrophy, Metachromatic

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