Metachromatic leukodystrophy: A clue to alcoholism
โ Scribed by P. Manowitz; D. Park; R.D. Poretz; S. Stein; J.D. Amsterdam; R. Nora; M. Ricketts
- Book ID
- 118857860
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 121 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0006-3223
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๐ SIMILAR VOLUMES
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
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