Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.
A case of pyruvate dehydrogenase E3 binding protein deficiency is reported in a 24-year-old male with encephalomyopathy. Blood lactate was only minimally elevated, as was alanine.
D000328:Adult; D000409:Alanine / Q000097:blood*; D006801:Humans; D019344:Lactic Acid / Q000097:blood*; D008297:Male; D010455:Peptides / Q000172:deficiency*; D011768:Pyruvate Dehydrogenase Complex
C045867:PDHX protein, human; D010455:Peptides; D011768:Pyruvate Dehydrogenase Complex; D019344:Lactic Acid; D000409:Alanine