title: Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
abstract: Pyruvate dehydrogenase deficiency is one of the genetic defects of mitochondrial energy metabolism. Clinical features are heterogeneous, ranging from fatal lactic acidosis in the newborn period to chronic neurodegenerative abnormalities. Most cases have mutations in the gene for the E1alpha subunit of the pyruvate dehydrogenase complex. Primary defects of the E3 binding protein component of the pyruvate dehydrogenase complex are rarier. We describe two unrelated Moroccan patients with the same new mutation c.1182 + 2T > C in the E3 binding protein gene PDHX and different clinical forms.
authors: Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco. mariam_tajir@yahoo.fr
authors: Mariam
authors: M
authors: Tajir
authors: Jean Baptiste
authors: JB
authors: Arnoux
authors: Audrey
authors: A
authors: Boutron
authors: Siham Chafai
authors: SC
authors: Elalaoui
authors: Pascale
authors: P
authors: De Lonlay
authors: Abdelaziz
authors: A
authors: Sefiani
authors: Michèle
authors: M
authors: Brivet
mesh_terms: D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009018:Morocco / Q000453:epidemiology; D020125:Mutation, Missense; D010375:Pedigree; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*
chemical_list: C045867:PDHX protein, human; D011768:Pyruvate Dehydrogenase Complex