A patient with an unusual form of metachromatic leukodystrophy
β Scribed by Sakkubai Naidu
- Publisher
- Springer-Verlag
- Year
- 1996
- Tongue
- English
- Weight
- 115 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1044-7393
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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
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts
Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra