Sanfilippo syndrome type C: assay for acetyl‐CoA: α‐glucosaminide N‐acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals
Authors:
- 1 July 1981
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 20 (1) , 55-59
Abstract
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.Keywords
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