Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia.
Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
Rev Endocr Metab Disord. 2018 Mar;19(1):69-79. doi: 10.1007/s11154-018-9444-5.
The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of metabolism are collectively not infrequent and important to consider as they may be treatable and tragic outcomes avoided. Hyperammonemia or lactic acidosis are most often secondary markers of an acquired primary disease process, but they may be a clue to the presence of a genetic disorder. Herein is presented an approach to the differential diagnosis of elevated ammonia and lactate, and a brief discussion of management for when an inborn error is diagnosed.
成人内分泌学家可能会被要求对不明原因的生化紊乱患者进行会诊，这些生化紊乱可能是由潜在的先天性代谢错误引起的。遗传疾病通常不太可能是病因，因为这些疾病各自很少见，但是代谢性先天性疾病并不罕见，需要考虑，因为它们可能是可治疗的，可以避免悲剧性的后果。高血氨或乳酸酸中毒通常是获得性原发性疾病过程的次要标志物，但它们可能是遗传疾病存在的线索。本文介绍了一种用于鉴别升高的氨和乳酸的诊断方法，并简要讨论了诊断出先天性代谢错误时的处理方法。
