Carrier detection in Sanfilippo A syndrome

Clin Genet. 1988 Jun;33(6):401-3. doi: 10.1111/j.1399-0004.1988.tb03471.x.

Abstract

Leucocytes or fibroblasts from 10 obligate heterozygotes for Sanfilippo A syndrome gave decreased heparan N-sulphatase levels, using a modification of the method of Hall et al. (1978), which did not overlap normal control values. Five family members gave decreased values and are presumed heterozygotes.

MeSH terms

  • Fibroblasts / enzymology
  • Genetic Carrier Screening / methods*
  • Humans
  • Hydrolases / blood
  • Leukocytes / enzymology
  • Mucopolysaccharidoses / genetics*
  • Mucopolysaccharidosis III / blood
  • Mucopolysaccharidosis III / genetics*

Substances

  • Hydrolases
  • N-sulfoglucosamine sulfohydrolase