The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy.
THe histopathological findings in a sural nerve biopsy of a new distinct variant of metachromatic leukodystrophy (MLD) are compared to those of classical MLD. The clinical and histological features are typical of a sulfatide lipidosis, yet in vitro activities of arylsulfatases A and B and cerebroside sulfatase are normal. Intact skin fibroblasts, when cultured in a medium supplemented with labelled sulfatide, show impaired in vivo sulfatide hydrolysis. A deficiency of the requisite activator protein is postulated.
D000328:Adult; D001192:Arylsulfatases / Q000032:analysis; D001706:Biopsy; D002553:Cerebroside-Sulfatase / Q000032:analysis; D003241:Consanguinity; D005260:Female; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure
D001192:Arylsulfatases; D002553:Cerebroside-Sulfatase