Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

doi:10.1136/jmg.31.9.667

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Article

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

Journal of medical genetics - 1 Sept 1994

Barth M L, Ward C, Harris A, Saad A, Fensom A

Abstract excerpt

Arylsulphatase A (ASA, EC 3.1.6.1) is a lysosomal enzyme that catalyses cerebroside sulphate degradation. ASA deficiency is associated with metachromatic leucodystrophy (MLD), a rare autosomal recessive disorder, which is characterised by the storage of cerebroside sulphate. Low ASA activities ca...

Topics

Base Sequence
Cerebroside-Sulfatase
Chromosome Mapping
Genotype
Humans
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Reference Values

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