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

Publisher Website
Google Scholar
Abstract
Serum samples from 175 individuals in 6 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. In 1 consanguineous family the NAG activity of both parents of 1 SFB obligate heterozygote was within the normal range for NAG activity. Plausible explanations for this finding are discussed. The serum NAG activity of 1 control and her mother was within 1 SD of the obligate heterozygote mean. These individuals are most probably carriers for SFB.