Neonatal pyruvate dehydrogenase deficien
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D. J. Byrd; H. -P. Krohn; L. Winkler; C. Steinborn; M. Hadam; J. Brodehl; D. H.
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Article
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1989
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Springer
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English
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A 2-day-old girl developed a severe lactic acidosis with a normal lactate/pyruvate ratio and hyperammonaemia. Plasma arginine and citrulline levels were below the limit of detection. In muscle total pyruvate dehydrogenase complex (PDHC) and pyruvate decarboxylase (El) activities were reduced to a fr