title: Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.
authors.affiliation: NSW Biochemical Genetics Service, The New Children's Hospital, Parramatta NSW , Australia. kevinc@nch.edu.au
authors.forename: K H
authors.initials: KH
authors.lastname: Carpente
authors.forename: B
authors.initials: B
authors.lastname: Wilcken
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: D R
authors.initials: DR
authors.lastname: Thorburn
mesh_terms: D020155:3-Hydroxybutyric Acid / Q000652:urine*; D000090:Acetoacetates / Q000652:urine*; D000140:Acidosis, Lactic / Q000201:enzymology* / Q000652:urine; D019731:Carbon-Nitrogen Ligases / Q000172:deficiency*; D002262:Carboxy-Lyases / Q000378:metabolism; D002648:Child; D006801:Humans; D007662:Ketosis / Q000201:enzymology* / Q000652:urine; D019344:Lactic Acid / Q000652:urine*; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase; D011766:Pyruvate Carboxylase / Q000378:metabolism
chemical_list: D000090:Acetoacetates; D019344:Lactic Acid; C016635:acetoacetic acid; D002262:Carboxy-Lyases; D019731:Carbon-Nitrogen Ligases; C023312:holocarboxylase synthetases; D011766:Pyruvate Carboxylase; D043586:Methylmalonyl-CoA Decarboxylase; D020155:3-Hydroxybutyric Acid