Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals

Clin Genet. 1981 Jul;20(1):55-9. doi: 10.1111/j.1399-0004.1981.tb01807.x.


As assay for the detection in leukocytes of homozygous and heterozygous carriers of Sanfilippo syndrome type C is described. In one family with two patients suffering from Sanfilippo C syndrome, the affected individuals had no residual activity to acetyl-CoA: alpha-glucosaminide N-acetyltransferase. The determination of the acetyl-CoA: alpha-glucosaminide N-acetyltransferase/ beta-glucuronidase ratio allows the discrimination between obligate heterozygotes and normal individuals and may be used for carrier detection.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetyl Coenzyme A / genetics*
  • Acetyltransferases / genetics*
  • Glucosamine / genetics
  • Heterozygote*
  • Homozygote*
  • Humans
  • Leukocytes / enzymology
  • Mucopolysaccharidoses / enzymology*
  • Mucopolysaccharidosis III / enzymology*


  • Acetyl Coenzyme A
  • Acetyltransferases
  • glucosamine acetyltransferase
  • Glucosamine