Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Mariam Tajir, Jean Baptiste Arnoux, Audrey Boutron, Siham Chafai Elalaoui, Pascale De Lonlay, Abdelaziz Sefiani, Michèle Brivet

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco. mariam_tajir@yahoo.fr

European journal of medical genetics 2012 Oct

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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. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Citation

Mariam Tajir, Jean Baptiste Arnoux, Audrey Boutron, Siham Chafai Elalaoui, Pascale De Lonlay, Abdelaziz Sefiani, Michèle Brivet. Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients. European journal of medical genetics. 2012 Oct;55(10):535-40