Lactic Acidosis Due to Pyruvate Carboxylase Deficiency

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1981 Jan 1

PMID 6790846

Citations 13

Authors

J C Haworth

B H Robinson

T L Perry

Affiliations

Soon will be listed here.

Abstract

Two unrelated Canadian Indian infants presented with metabolic acidosis. Lactate, pyruvate, glutamic acid, proline and alanine were greatly elevated in plasma. Urinary excretion of alpha-ketoglutarate and pyruvate was increased. Pyruvate carboxylase activity was very low in skin fibroblasts and liver. Phosphoenolpyruvate carboxykinase was low in liver. Both infants were unresponsive to several enzyme cofactors, including biotin. Both survive at age 2 years with severe mental retardation..

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References

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