A case of adult onset metachromatic leukodystrophy
β Scribed by Kae Ito; Nobuyoshi Miura; Shuichi Awata; Eiji Nanba; Hiroo Matsuoka
- Book ID
- 108962362
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 36 KB
- Volume
- 63
- Category
- Article
- ISSN
- 1323-1316
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A 20-year-old female had psychiatric symptoms of organic brain disease for five years but without clinical or neurophysiological signs of polyneuropathy. Late-onset metachromatic leukodystrophy was confirmed by finding severely reduced arylsulfatase A activity in her urine and leukocytes, marked exc
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