title: Malonyl coenzyme A decarboxylase deficiency.
abstract: Two new cases of malonyl coenzyme A (CoA) decarboxylase deficiency are described. Hitherto, the worldwide experience of the disorder has been confined to reports on two affected Australian children. The new cases are Scots born and are the offspring of consanguinous parents of Scots/Irish origin. They were investigated during episodes of vomiting and febrile convulsions associated with concomitant developmental delay. Malonic aciduria and grossly reduced malonyl CoA decarboxylase activity were demonstrated and the total ion current chromatograms of urinary organic acid profiles obtained by gas chromatography-mass spectrometry are presented. The clinical and biochemical features of the Scots and Australian patients are compared.
authors.affiliation: Department of Biochemistry, Royal Hospital for Sick Children, Yorkhill, Glasgow.
authors.forename: G B
authors.initials: GB
authors.lastname: MacPhee
authors.forename: R W
authors.initials: RW
authors.lastname: Logan
authors.forename: J S
authors.initials: JS
authors.lastname: Mitchell
authors.forename: D W
authors.initials: DW
authors.lastname: Howells
authors.forename: E
authors.initials: E
authors.lastname: Tsotsis
authors.forename: D R
authors.initials: DR
authors.lastname: Thorburn
mesh_terms: D000272:Adipates / Q000652:urine; D002262:Carboxy-Lyases / Q000172:deficiency*; D002675:Child, Preschool; D003241:Consanguinity; D003998:Dicarboxylic Acids / Q000652:urine; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006626:Hippurates / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D008314:Malonates / Q000652:urine
chemical_list: D000272:Adipates; D003998:Dicarboxylic Acids; D006626:Hippurates; D008314:Malonates; D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase; C005230:methyl malonate