1969 Volume 99 Issue 2 Pages 121-128
A 10-year-old girl with mental retardation, hyperalaninemia and pyruvicemia was described. Studies on liver biopsy specimens from this patient revealed that pyruvate carboxylase activity was markedly decreased, whereas both pyruvate decarboxylation and glutamic pyruvic transaminase were normal in activity. Furthermore, it was found that an incorporation of pyruvate-2-14C into glycogen in the liver was markedly diminished in the patient as compared with that in a control.
These findings suggest that the metabolic lesion in the patient with hyper-alaninemia and pyruvicemia is a defective activity of pyruvate carboxylase of the liver, leading to an impaired gluconeogenesis.