6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.
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.
Cromby
C H
CH
University Department of Paediatrics, Children's Hospital, Sheffield, UK.
Manning
N J
NJ
Pollitt
R J
RJ
Powell
S
S
Bennett
M J
MJ
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
D007651:Keto Acids; D014498:Uracil; C008378:6-methyluracil; D000102:Acetyl-CoA C-Acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase