Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
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.
Leonard
J V
JV
Department of Child Health, Institute of Child Health, London, UK.
Hyland
K
K
Furukawa
N
N
Clayton
P T
PT
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*
D010729:Phosphoenolpyruvate Carboxykinase (GTP)