title: The diagnosis of mitochondrial HMG-CoA synthase deficiency.
abstract: Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes.
authors.affiliation: Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
authors.forename: Johannes M
authors.initials: JM
authors.lastname: Penzien
authors.forename: Rainer
authors.initials: R
authors.lastname: Bielen
authors.forename: Núria
authors.initials: N
authors.lastname: Casals
authors.forename: Rosa
authors.initials: R
authors.lastname: Aledo
authors.forename: Juan
authors.initials: J
authors.lastname: Pié
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: Fausto G
authors.initials: FG
authors.lastname: Hegardt
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
mesh_terms: D003066:Coenzyme A Ligases / Q000172:deficiency*; D004252:DNA Mutational Analysis; D005215:Fasting / Q000378:metabolism; D005260:Female; D006801:Humans; D006904:Hydroxymethylglutaryl-CoA Synthase; D007003:Hypoglycemia / Q000201:enzymology; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008930:Mitochondria, Liver / Q000201:enzymology*; D008968:Molecular Conformation
chemical_list: D006904:Hydroxymethylglutaryl-CoA Synthase; D003066:Coenzyme A Ligases