Journal of Inherited Metabolic Disease 1981
Lactic acidosis due to pyruvate carboxylase deficiency.
只有注册用户可以翻译文章
登陆注册
链接已保存到剪贴板
关键词
抽象
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..