Chronic hexosaminidase A and B deficiency

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Abstract
The leukocytes and fibroblasts from a mildly retarded 10‐year‐old girl who had a slowly progressive motor dysfunction showed absence of hexosaminidase A and B activities. Leukocytes from her asymptomatic mother and sister contained half the normal levels of both enzymes. This child is the second patient reported with a chronic form of hexosaminidase A and B deficiency, an enzyme deficiency previously described only in infants with rapidly progressive psychomotor deterioration (Sandhoff's disease).