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Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex

โœ Scribed by Naito, E.; Ito, M.; Yokota, I.; Saijo, T.; Matsuda, J.; Kuroda, Y.

Book ID
113042899
Publisher
Springer
Year
1998
Tongue
English
Weight
212 KB
Volume
157
Category
Article
ISSN
0340-6997

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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