The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.

doi:10.1002/(SICI)1098-1004(1998)12:4<238::AID-HUMU3>3.0.CO;2-B

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Article

The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.

Human mutation - 1 Jan 1998

Ricketts M H, Poretz R D, Manowitz P

Abstract excerpt

Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H m...

Topics

Adult
Black People
Cerebroside-Sulfatase
Female
Genetic Testing
Genotype
Humans
Leukodystrophy, Metachromatic
Male
Mutation
Polymorphism, Genetic
Black or African American

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