Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.
We describe an assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase using purified [14C]glucosamine as substrate, and leukocytes as enzyme source. The assay is suitable for the diagnosis of homozygous and heterozygous carriers of Sanfilippo syndrome type C.
D000123:Acetyltransferases / Q000097:blood*; D002250:Carbon Radioisotopes; D006580:Genetic Carrier Screening / Q000379:methods; D005944:Glucosamine; D006720:Homozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics
D002250:Carbon Radioisotopes; D000123:Acetyltransferases; C020580:glucosamine acetyltransferase; D005944:Glucosamine