Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.

doi:10.1159/000007960

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Article

Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.

European neurology - 1 Aug 1998

Tylki-Szymańska A T, Czartoryska B, Lugowska A

Abstract excerpt

Metachromatic leukodystrophy (MLD) is one of the most severe genetically determined demyelination diseases. It is caused by a deficit in the activity of sulfatide sulfatase. The diagnosis is made by demonstrating a deficiency of arylsulfatase A (ASA) activity in leukocytes or cultured skin fibrob...

Topics

Alleles
Cerebroside-Sulfatase
Fibroblasts
Genetic Counseling
Genotype
Humans
Leukocytes
Leukodystrophy, Metachromatic
Phenotype

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