0000000000591802
AUTHOR
K. Harzer
Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.
In a family with juvenile metachromatic leukodystrophy (sulfatide lipidosis) 2 patients showed residual arysulfatase A activities of 5--6%. The patients' healthy father was characterized biochemically by a 39% normal activity of leukocyte plus plasma arylsulfatase A. The father was further characterized by a high sulfatide excretion (0.2--0.5 mg/I urine) and, paradoxically, by a normal sulfatide degrading enzyme activity in vitro. This special carrier is suspected 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 precl…
Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy
Die detaillierte nosographische Analyse eines 25jahrigen Patienten mit adulter metachromatischer Leukodystrophie wird mitgeteilt. Der Patient zeigt langsam progrediente psychische, charakterliche, intellektuelle, zentralund periphernervose Veranderungen. — Die biochemische Diagnostik ergab einen weitgehenden Arylsulfatase A-Mangel in Urin und Leukocyten sowie eine erhohte Sulfatidausscheidung im Urin (2–7 mg je Liter). — Durch histochemische Untersuchungen einer Nervus suralis-Biopsie wurde metachromatisches Speichermaterial nachgewiesen.