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

An 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 of acetyl-CoA: α-glucosaminide N-acetyltransferase. The determination of the acetyl-CoA: α-glucosaminide N-acetyltransferase/β-glucuronidase ratio allows the discrimination between obligate heterozy-gotes and normal individuals and may be used for carrier detection.