Goldberg G R, Greene C L
J Pediatr Health Care. 1992 Jul-Aug;6(4):176-81. doi: 10.1016/0891-5245(92)90002-l.
Initially thought to be rare, primary lactic acidemia is diagnosed with increasing frequency. Elevations in lactate and pyruvate are markers for a variety of metabolic blocks. Although there have been great strides made in the diagnosis and treatment of lactic acidemia, much remains to be learned. As laboratory techniques improve, clinicians will be able to make an exact enzymatic diagnosis on an increasing percentage of patients. Specific enzymatic diagnosis also will help clinicians determine inheritance patterns, recurrence risks, and methods of prenatal diagnosis.
原发性乳酸性血症最初被认为较为罕见，但目前其诊断频率正在增加。乳酸和丙酮酸水平升高是多种代谢障碍的标志物。尽管在乳酸性血症的诊断和治疗方面已经取得了很大进展，但仍有许多有待了解的地方。随着实验室技术的改进，临床医生将能够对越来越多的患者做出准确的酶学诊断。特异性酶学诊断也将帮助临床医生确定遗传模式、复发风险和产前诊断方法。
