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Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

โœ Scribed by G. K. Brown; R. D. Scholem; S. M. Hunt; J. R. Harrison; A. C. Pollard


Publisher
Springer
Year
1987
Tongue
English
Weight
766 KB
Volume
10
Category
Article
ISSN
0141-8955

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Neonatal pyruvate dehydrogenase deficien
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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