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

Eur J Med Genet. 2012 Oct;55(10):535-40. doi: 10.1016/j.ejmg.2012.06.006. Epub 2012 Jul 20.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Morocco / epidemiology
  • Mutation, Missense*
  • Pedigree
  • Pyruvate Dehydrogenase Complex / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / epidemiology
  • Pyruvate Dehydrogenase Complex Deficiency Disease / etiology
  • Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*

Substances

  • PDHX protein, human
  • Pyruvate Dehydrogenase Complex