Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolip
โฆ LIBER โฆ
Molecular genetics of metachromatic leukodystrophy
โ Scribed by V. Gieselmann; A. Polten; J. Kreysing; K. Figura
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 689 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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In a family with juvenile metachromatic leukodystrophy (sulfatide lipidosis) 2 patients showed residual arylsulfatase A activities of 5--6O/o . The patients' healthy father was characterized biochemicMly by a 39% normal activity of leukoeyte plus plasma arylsulfatase A. The father was further charac