Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy

✍ Scribed by Harzer, K. ;Recke, A. S.

• Publisher: Springer-Verlag
• Year: 1975
• Weight: 554 KB
• Volume: 29
• Category: Article
• ISSN: 0018-7348
• DOI: 10.1007/bf00394192

✦ Synopsis

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 characterized by a high sulfatide excretion (0.2--0.5 mg/l urine) and, paradoxically, by a normal sulfatide degrading enzyme activity in vitro. This special carrier is suspeeted to be heterozygous for a) arylsulfatase A deficiency and b) arylsulfatase A (sulfatidase) lability. This presumed additional genetic defect could be the cause of the sulfatide excretion which, in turn, would be a sign of the preclinical stage of an exceptional form of adult metaehromatie leukodystrophy. The normal sulfatidase activity seems to be due to an in vitro effect.