Carrier detection in Sanfilippo syndrome type B: report of six families

Abstract

Serum samples from 175 individuals in six Sanfilippo syndrome type B (SFB) families and 360 White controls were assayed for serum alpha-N-acetyl-D-glucosaminidase (NAG) activity. Only minimal overlap was observed between the controls' NAG activity distribution and that of the 12 obligate heterozygotes. The distribution of NAG activity was log transformed to reduce skewness, and segregation of family members with a prior risk of being a SFB carrier was well within expected limits. However, in one consanguineous family the NAG activity of both parents of one SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. Additionally, the serum NAG activity of one control and her mother were found to lie within one standard deviation of the obligate heterozygote mean. These individuals are most probably carriers for SFB.