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Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.

Abstract
Pyruvate dehydrogenase deficiency is an important cause of primary lactic acidosis. Most cases occur as a result of mutations in the gene for the E1 alpha subunit of the complex, with a small number resulting from mutations in genes for other components, most commonly the E3 and E3-binding protein subunits. We describe pyruvate dehydrogenase E3-binding protein deficiency in two siblings in each of two unrelated families from Kuwait. The index patient in each family had reduced pyruvate dehydrogenase activity in cultured fibroblasts and no detectable immunoreactive E3-binding protein. Both were homozygous for nonsense mutations in the E3-binding protein gene, one involving the codon for glutamine 266, the other the codon for tryptophan 5.
AuthorsD G Ramadan, R A Head, A Al-Tawari, Y Habeeb, M Zaki, F Al-Ruqum, G T N Besley, J E Wraith, R M Brown, G K Brown
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 27 Issue 4 Pg. 477-85 ( 2004) ISSN: 0141-8955 [Print] United States
PMID15303005 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Codon
  • Codon, Nonsense
  • DNA, Complementary
  • PDHX protein, human
  • Peptides
  • Pyruvate Dehydrogenase Complex
  • Glutamine
  • Tryptophan
Topics
  • Acidosis, Lactic (enzymology)
  • Base Sequence
  • Cells, Cultured
  • Codon (genetics)
  • Codon, Nonsense
  • Consanguinity
  • DNA, Complementary (chemistry)
  • Female
  • Fibroblasts (enzymology)
  • Glutamine (genetics)
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Kuwait
  • Magnetic Resonance Imaging
  • Peptides (deficiency, genetics)
  • Pyruvate Dehydrogenase Complex (genetics)
  • Syria (ethnology)
  • Tryptophan (genetics)

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