An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient
โ Scribed by Regis, Stefano; Corsolini, Fabio; Ricci, Verena; Di Duca, Marco; Filocamo, Mirella
- Book ID
- 110025509
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 94 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1018-4813
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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
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ASA). A substantial ASA deficiency has also been described in clinically healthy persons, a condition for which the term pseudodeficiency was introduced. The discrimination of both kinds o
Linkage disequilibrium exists between metachromatic leukodystrophy (MLD) and pseudodeficiency mutations and selected polymorphisms within the arylsulfatase A gene. We have identified 2 new polymorphic NlaIII sites, NlaIII 1 and NlaIII 2 , in the gene that, when used in combination with the known Bsr