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Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1978 Oct;75(10):5185–5189. doi: 10.1073/pnas.75.10.5185

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

U Klein, H Kresse, K von Figura
PMCID: PMC336290  PMID: 33384

Abstract

Removal of N-sulfated glucosamine residues during degradation of heparan sulfate is accomplished by the sequential action of three enzymes. Action of sulfamidase results in the formation of alpha-glucosaminide residues. Removal of these groups requires conversion to alpha-N-acetylglucosaminide by the action of an acetyltransferase in the presence of acetyl-CoA, followed by hydrolysis by alpha-N-acetylglucosaminidase. In fibroblast homogenates from three patients with Sanfilippo syndrome type C (mucopolysaccharidosis III C), a biochemical variant of the Sanfilippo syndrome, complete deficiency of the acetyl-CoA:alpha-glucosaminide N-acetyltransferase activity was detected. Activities of all lysosomal hydrolases known so far to degrade mucopolysaccharides, including those of sulfamidase and alpha-N-acetylglucosaminidase, were in the range of controls. Acetyl-CoA:alpha-glucosaminide N-acetyltransferase activity was normal in fibroblasts of patients with other genetic mucopolysaccharidoses, including Sanfilippo syndrome A and B.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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