Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.
de Meirleir
L J
LJ
Laboratory of Medical Genetics, Universiteit Brussel, Belgium.
Lissens
W
W
Vamos
E
E
Liebaers
I
I
D000140:Acidosis, Lactic / Q000201:enzymology / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D015153:Blotting, Western; D004247:DNA / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010766:Phosphorylation; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D012694:Serine / Q000378:metabolism
D012694:Serine; D004247:DNA