1. An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
- Author
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Tønnesen T, Schultz Andersen M, Burkart T, Christomanou H, Brøndum Nielsen K, and Wiesmann UN
- Subjects
- Child, Female, Fibroblasts enzymology, Humans, Leukocytes enzymology, Muscle Hypotonia enzymology, Psychomotor Disorders enzymology, Sulfoglycosphingolipids metabolism, Cerebroside-Sulfatase deficiency, Sulfatases deficiency, Sulfoglycosphingolipids urine
- Abstract
A 7-year-old girl who showed retarded psychomotor development and generalized hypotonia without any signs of progression is described. Marked deficiency of arylsulfatase A activity in leukocytes and fibroblasts was observed. Both parents showed activity in cultured fibroblasts within the heterozygote-normal range. Cerebroside-sulfatase activity was absent in cultured fibroblasts from the patient. Urinary analyses revealed a pathologically increased sulfatide excretion. Normal sensory nerve conduction velocity was found, but no metachromatic material was found in a sural nerve biopsy. Loading of the patient's fibroblasts with sulfatides resulted in normal uptake and normal degradation.
- Published
- 1983
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