Sanfilippo syndrome type C: assay for acetyl‐CoA: α‐glucosaminide N‐acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals
- 1 July 1981
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 20 (1) , 55-59
- https://doi.org/10.1111/j.1399-0004.1981.tb01807.x
Abstract
An assay for the detection in leukocytes of homozygous and heterozygous carriers of Sanfilippo Syndrome type C is described. In 1 family with 2 patients suffering from Sanfilippo C syndrome, the affected individuals had no residual activity of acety-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.Keywords
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