Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
โ Scribed by Jan A. F. M. Luyten; Paul W. Wenink; Gerry C. H. Steenbergen-Spanjers; Ron A. Wevers; Hans Kristian Ploos Amstel; Jan G. N. Jong; Lambert P. W. J. Heuvel
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 378 KB
- Volume
- 96
- Category
- Article
- ISSN
- 0340-6717
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Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA), is inherited as an autosomal recessive trait, and its frequency is estimated to be 1 in 40,000 live births. Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was
Communicated by Robert I. Desnick Metachromatic leukodystmphy (MLD) is an autosomal recessive disorder of myelin metabolism, resulting from the inability to properly degrade 3-sulfogalactosylceramide (sulfatide). This metabolic block is often due to defective functioning of the lysosomal enzyme aryl