Metachromatic leukodystrophy without arylsulfatase A deficiency: A new case of saposin-B deficiency
✍ Scribed by Nicolas Deconinck; Anissa Messaaoui; France Ziereisen; Hazim Kadhim; Yves Sznajer; Karine Pelc; Marie Cécile Nassogne; Marie T. Vanier; Bernard Dan
- Book ID
- 113590230
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 809 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1090-3798
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Metachromatic Leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The disease manifests itself with a broad spectrum of clinical variants, all characterized by progressive neurodegeneration in the central and peripheral nervous syst
Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this p