4H syndrome: a rare cause of leukodystrophy
✍ Scribed by Olivier Outteryck; David Devos; Patrice Jissendi; Odile Boespflug-Tanguy; Lucie Hopes; Dimitri Renard; Joël Ferri; Patrick Vermersch; Pierre Labauge
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 618 KB
- Volume
- 257
- Category
- Article
- ISSN
- 0340-5354
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## Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H