title: Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.
abstract: We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.
authors.affiliation: Institute of Inherited Metabolic Diseases, General Faculty Hospital & Charles University 1st Faculty of Medicine, Prague, Czech Republic. LMRAZ@LF1.CUNI.CZ
authors.forename: L
authors.initials: L
authors.lastname: Mrázová
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: K
authors.initials: K
authors.lastname: Hálovd
authors.forename: E
authors.initials: E
authors.lastname: Gregová
authors.forename: V
authors.initials: V
authors.lastname: Kohút
authors.forename: D
authors.initials: D
authors.lastname: Pribyl
authors.forename: P
authors.initials: P
authors.lastname: Chrastina
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: E
authors.initials: E
authors.lastname: Pospisilová
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency / Q000235:genetics*; D002675:Child, Preschool; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D008928:Mitochondria / Q000201:enzymology*; D020125:Mutation, Missense
chemical_list: D000101:Acetyl-CoA C-Acetyltransferase