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Lactic acidosis due to pyruvate carboxylase deficiency (1981)

Haworth, J. C. ; Robinson, B. H. ; Perry, T. L.

Springer

Journal of inherited metabolic disease 4 (1981), S. 57-58

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ISSN: 1573-2665

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: 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 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF02263589

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