Abstract
Since 1961 seven patients have been reported with both generalized neuronal storage and metachromatic degeneration of white matter. These patients have the onset of their degenerative disorder during their second year of life with loss of motor skills. Deafness and seizures ensue. Associated findings include icthyosis, minor skeletal anomalies, and hepatosplenomegaly. Alder-Reilly bodies are seen in the white blood cells and the urine contains excessive amounts of cerebroside sulfate and glycosaminoglycans.
Frozen post mortem tissues from two unrelated patients with this disorder were available for enzymatic studies. Aryl sulfatases A and C were absent in all tissues studied. Aryl sulfatase B was deficient in liver, but relatively absent in brain and kidney. Steroid, cholesterol and estrone sulfatase activities were absent in liver. Mixing experiments failed to reveal a factor inhibiting these sulfatases. Enzymatic study of parental white blood cells failed to identify the carrier state. Several accumulated substrates could be specifically associated with an enzymatic deficiency.
Explanations for the absence of these lysosomal and microsomal enzymes are theoretical, but other disorders of multiple enzyme deficiencies have been reported.
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Murphy, J., Williams, M., Moser, H. et al. Multiple sulfatase deficencies, the enzymatic basis of a new disorder. Pediatr Res 5, 372 (1971). https://doi.org/10.1203/00006450-197108000-00007
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DOI: https://doi.org/10.1203/00006450-197108000-00007