title: Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
abstract: The sibling of a patient in whom a diagnosis of phosphoenolpyruvate carboxykinase had been made developed a similar clinical illness with liver failure. However the activity of phosphoenolpyruvate carboxykinase in leucocytes and fibroblasts was normal. Phosphoenolpyruvate carboxykinase is not the primary defect in this family.
authors.affiliation: Department of Child Health, Institute of Child Health, London, UK.
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
authors.forename: K
authors.initials: K
authors.lastname: Hyland
authors.forename: N
authors.initials: N
authors.lastname: Furukawa
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
mesh_terms: D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000209:etiology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D008928:Mitochondria / Q000201:enzymology; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000737:chemistry / Q000172:deficiency*
chemical_list: D010729:Phosphoenolpyruvate Carboxykinase (GTP)