Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1α subunit

We report the molecular characterization of a case of a functional PDH-E1 (E1 subunit of pyruvate dehydrogenase) deficiency, a cause of severe congenital lactic acidosis. Residual PDH-E1 activity was reduced to 10% of normal values, although the subunit appeared to be quantitatively and qualitativel...

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Veröffentlicht in:	Human genetics 1992-03, Vol.88 (6), p.649-652
Hauptverfasser:	DE MEIRLEIR, L, LISSENS, W, VAMOS, E, LIEBAERS, I
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis, Lactic - congenital Acidosis, Lactic - genetics Amino Acid Sequence Base Sequence Biological and medical sciences cDNA Cloning, Molecular deficiency DNA E1 alpha subunits genes Humans Infant, Newborn insertion Male man Medical sciences Metabolic diseases Miscellaneous Molecular Sequence Data Mutation nucleotide sequence Other metabolic disorders patients phosphorylation Polymerase Chain Reaction pyruvate dehydrogenase Pyruvate Dehydrogenase (Lipoamide) Pyruvate Dehydrogenase Complex - genetics Pyruvate Dehydrogenase Complex Deficiency Disease RNA, Messenger - metabolism serine
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