The lack of oxaloacetate prevents gluconeogenesis and urea cycle function. MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency. Brain amino acid abnormalities in pyruvate carboxylase deficiency. Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples. Medicine is a constantly changing science and not all therapies are clearly established.
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