title: 6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.
abstract: 6-Methyluracil (6MU) has been identified in urine collected during acute illness in two children with beta-ketothiolase deficiency (approximately 1 mmol/L) and in two children with recurrent infection-related ketoacidaemia of unknown aetiology (levels of 6.3 and 7.1 mmol/mmol creatinine). Significant amounts of 6MU were not detected in children with fasting ketosis in whom a metabolic disorder was excluded (normal levels less than 25 mumol/mmol creatinine). We propose that the production of 6MU may be related to the accumulation of acetoacetyl-CoA and thus be a marker for disorders where this occurs.
authors.affiliation: University Department of Paediatrics, Children's Hospital, Sheffield, UK.
authors.forename: C H
authors.initials: CH
authors.lastname: Cromby
authors.forename: N J
authors.initials: NJ
authors.lastname: Manning
authors.forename: R J
authors.initials: RJ
authors.lastname: Pollitt
authors.forename: S
authors.initials: S
authors.lastname: Powell
authors.forename: M J
authors.initials: MJ
authors.lastname: Bennett
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency*; D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007651:Keto Acids / Q000097:blood*; D007662:Ketosis / Q000097:blood / Q000652:urine*; D008297:Male; D013058:Mass Spectrometry; D012008:Recurrence; D014498:Uracil / Q000031:analogs & derivatives* / Q000652:urine
chemical_list: D007651:Keto Acids; D014498:Uracil; C008378:6-methyluracil; D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase