Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.

doi:10.1002/ajmg.1320450523

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Article

Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.

American journal of medical genetics - 1 Mar 1993

Shen N, Li Z G, Waye J S, Francis G, Chang P L

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a severe neurodegenerative disease associated with deficient arylsulfatase A activity. Biochemical confirmation of this disorder has been complicated by a clinically normal but enzymatically deficient variant, pseudo arylsulfatase-A deficiency (PD). The PD mu...

Topics

Adult
Alleles
Arylsulfatases
Base Sequence
DNA
DNA Mutational Analysis
Genotype
Humans
Leukodystrophy, Metachromatic
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction

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