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Lactic acidosis due to pyruvate carboxylase deficiency
Author(s) -
Haworth J. C.,
Robinson B. H.,
Perry T. L.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263589
Subject(s) - lactic acidosis , pyruvate carboxylase , acidosis , human genetics , medicine , metabolic disease , chemistry , biochemistry , endocrinology , enzyme , gene
Two unrelated Canadian Indian infants presented with metabolic acidosis. Lactate, pyruvate, glutamic acid, proline and alanine were greatly elevated in plasma. Urinary excretion of α‐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.