Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.
We examined the pyruvate dehydrogenase (PDH) complex using bio- and immunochemical methods with cultured cells derived from 2 boys with mental retardation, ataxia, and primary lactic acidemia due to partial deficiency in the PDH complex. We found a defect in dephosphorylation and the subsequent activation of the E1 alpha subunit of the enzyme.
Kitano
A
A
Department of Pediatrics, Kumamoto University Medical School, Japan.
Endo
F
F
Matsuda
I
I
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D007525:Isoelectric Focusing; D007773:Lactates / Q000378:metabolism*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008928:Mitochondria / Q000201:enzymology; D011768:Pyruvate Dehydrogenase Complex / Q000032:analysis* / Q000276:immunology; D012867:Skin / Q000201:enzymology
D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex