Inherited organic acidemias are a group of metabolic disorders currently being described and investigated as gas-liquid chromatography is applied to unexplained diseases of infancy and childhood. Common clinical presentations include attacks of ketoacidosis, unexplained metabolic acidosis, failure of normal development, seizures, and other neurologic abnormalities. Hyperglycinemia, hyperammonemia, and hypoglycemia are other laboratory findings frequently present. Diagnosis depends on examination of urine, and sometimes blood, by gas-liquid chromatography to measure concentrations of organic acids and organic acid derivatives. Prognosis in many cases is excellent if diagnosis is made promptly and the metabolic acidosis can be reversed. Recovery from neurologic deficits has frequently been seen. Long-term therapy is generally dependent on restricting precursors of the toxic organic acid which builds up as a consequence of the enzyme deficiency. If there is some enzyme activity retained or if alternate metabolic pathways exist, success with therapy is likely.
遗传性有机酸血症是一组代谢紊乱疾病，随着气液色谱法应用于婴幼儿不明原因疾病的研究，目前正得到描述和研究。常见的临床表现包括酮症酸中毒发作、不明原因的代谢性酸中毒、发育迟缓、癫痫发作及其他神经学异常。高甘氨酸血症、高氨血症和低血糖也是常见的实验室检查结果。诊断依赖于通过气液色谱法检测尿液（有时也检测血液）来测量有机酸和有机酸衍生物的浓度。如果能及时诊断并纠正代谢性酸中毒，许多病例的预后良好。神经功能缺损常常可以恢复。长期治疗通常依赖于限制因酶缺乏而蓄积的有毒有机酸的前体物质。如果仍保留一些酶活性或存在替代代谢途径，治疗可能会成功。
