Tønnesen T, Schultz Andersen M, Burkart T, Christomanou H, Brøndum Nielsen K, Wiesmann U N
Acta Paediatr Scand. 1983 Nov;72(6):837-41. doi: 10.1111/j.1651-2227.1983.tb09826.x.
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.
