Leroux J P, Marsac C, Saudubray J M
Ann Biol Clin (Paris). 1976;34(2):151-9.
Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin.
先天性酶病性高乳酸血症是由于丙酮酸利用缺陷所致，该缺陷可发生在丙酮酸连接点水平（丙酮酸羧化酶、丙酮酸脱氢酶和三羧酸循环），或发生在糖异生和糖原异生的单向酶水平，如葡萄糖-6-磷酸酶、磷酸烯醇丙酮酸羧激酶和糖原合成酶。影响糖异生的酶病伴有高乳酸血症和空腹低血糖以及或多或少明显的肝肿大。I型糖原生成障碍（冯·吉尔克病）是最著名的例子。影响丙酮酸连接点和三羧酸循环的酶病，还可能表现为：——要么是慢性神经病变，如 Leigh 病、复发性共济失调和中度高乳酸血症，——要么如先天性乳酸酸中毒那样，预后迅速且严重，伴有严重高乳酸血症。功能检查，特别是负荷试验，在诊断方向上具有重要价值，并证明进行组织活检的合理性，组织活检可进行酶诊断。关于这些疾病发病机制的最新但尚未得到证实的知识强调了在遗传性代谢性酸中毒调查中估计血乳酸的重要性。
