Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy
โ Scribed by Luzi, Paola; Rafi, Mohammad A.; Rao, Han Zhi; Wenger, David A.
- Book ID
- 122966875
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 173 KB
- Volume
- 530
- Category
- Article
- ISSN
- 0378-1119
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๐ SIMILAR VOLUMES
A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation. One patient demonstrated acute intermittent encephalopathic episodes for 1 year after having received the diagnosis of MLD at the age of
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed
## 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