Article
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
American journal of human genetics - 1 Aug 1993
Kreysing J, Bohne W, Bösenberg C, Marchesini S, Turpin J C, Baumann N, von Figura K, Gieselmann V
Abstract excerpt
We identified a patient suffering from late-infantile metachromatic leukodystrophy (MLD) who has a residual arylsulfatase A (ARSA) activity of about 10%. Fibroblasts of the patient show significant sulfatide degradation activity exceeding that of adult MLD patients. Analysis of the ARSA gene in t...
Topics
- Alleles
- Animals
- Base Sequence
- Cells, Cultured
- Cerebroside-Sulfatase
- Cricetinae
- DNA Mutational Analysis
- Fluorescent Antibody Technique
- Frameshift Mutation
- Genotype
- Glycine
- Humans
- Infant
- Leukodystrophy, Metachromatic
- Male