Pyruvate dehydrogenase E3 binding protein deficiency.
Primary defects of the E3 binding protein component of the pyruvate dehydrogenase complex appear to be a rare cause of pyruvate dehydrogenase deficiency. We describe two new, unrelated patients with mutations in the E3 binding protein gene, in both cases involving the conserved dinucleotides of splice junctions. Both patients presented with delayed development and lactic acidosis, features that are also found in patients with the more common pyruvate dehydrogenase E1 alpha subunit deficiency; however, they both had significant residual enzyme activity in cultured fibroblasts and prolonged survival.
Brown
Ruth M
RM
Genetics Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
Head
Rosie A
RA
Brown
Garry K
GK
D000293:Adolescent; D001483:Base Sequence; D002478:Cells, Cultured; D002648:Child; D003241:Consanguinity; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology; D006801:Humans; D008297:Male; D010455:Peptides / Q000172:deficiency* / Q000235:genetics; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000235:genetics*; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
C045867:PDHX protein, human; D010455:Peptides; D011768:Pyruvate Dehydrogenase Complex; D012333:RNA, Messenger; D030481:Pyruvate Dehydrogenase (Lipoamide)