In two related Sanfilippo B families, comprising 27 individuals, some biochemical parameters were studied. After detection of the patients, an attempt was made to distinguish between heterozygotes and normals. The excretion of glycosaminoglycans in the urine and N-acetyl-u-D-glucosaminidase activity in leukocytes and plasma were taken as parameters for the study. The determination of N-acetyl-a-D-glucosaminidase activity in plasma is considered to be the most suitable method for heterozygote detection.The Sanfilippo B disease (mucopolysaccha-193, 265-275.
Two closely related sibships are described in which six definite and two probable patients with Sanfilippo B disease were found. The wide variation in phenotypic expression in these patients is suggestive of a genetic background effect.
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