Clin Genet. 1981 Jul;20(1):55-9.

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

Klein U, van de Kamp JJ, von Figura K, Pohlmann R.

Abstract

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.

PMID:: 6794963; [PubMed - indexed for MEDLINE]

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Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source. [Pediatr Res. 1984]
Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.
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Review Inherited metabolic diseases affecting the carrier. [J Inherit Metab Dis. 1997]
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Cited by 2 PubMed Central articles

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. [PLoS One. 2009]
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M, Durand S, Pshezhetsky AV. PLoS One. 2009 Oct 13; 4(10):e7434. Epub 2009 Oct 13.
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). [Am J Hum Genet. 2006]
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, et al. Am J Hum Genet. 2006 Nov; 79(5):807-19. Epub 2006 Sep 8.

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