Article
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
Human genetics - 1 Mar 1991
Kappler J, Leinekugel P, Conzelmann E, Kleijer W J, Kohlschütter A, Tønnesen T, Rochel M, Freycon F, Propping P
Abstract excerpt
Arylsulfatase A (ASA) is a lysosomal enzyme that hydrolyzes sulfatide. Absence of ASA activity leads to metachromatic leukodystrophy (MLD). The clinical outcome resulting from ASA deficiency is highly variable with respect to age of onset and symptoms. So far the causes for the variability are poorly understood. We have studied the relationship between the ASA genotype and the clinical phenotype. Fibroblasts from...
Topics
- Adolescent
- Adult
- Cells, Cultured
- Cerebroside-Sulfatase
- Child
- Child, Preschool
- Electrophoresis, Polyacrylamide Gel
- Genotype
- Homozygote
- Humans
- Immunoblotting