Feinstein Jeffrey A, O'Brien Kevin
Department of Internal Medicine, Wilford Hall Medical Center, Lackland AFB, TX 78236, USA.
South Med J. 2003 May;96(5):500-3. doi: 10.1097/01.SMJ.0000051141.03668.1D.
Isovaleric acidemia is a rare autosomal recessive inborn error of leucine catabolism caused by deficiency of isovaleryl coenzyme A dehydrogenase. This enzymatic deficiency leads to severe metabolic derangement, manifested clinically as vomiting, dehydration, and acidosis progressing to seizures, coma, and death. The two phenotypic expressions are the acute severe and the chronic intermittent form. The acute severe phenotype typically results in death during early infancy, whereas patients with the chronic intermittent form are asymptomatic at baseline but have episodes of acute metabolic decompensation, usually in the setting of infection, physical exertion, or ingestion of protein-rich food. This case illustrates how inborn errors of metabolism resulting in organic acidemia can be manifested in adults and why the internist needs to be aware of them.
异戊酸血症是一种罕见的常染色体隐性遗传性亮氨酸分解代谢先天性缺陷疾病，由异戊酰辅酶A脱氢酶缺乏所致。这种酶缺乏会导致严重的代谢紊乱，临床上表现为呕吐、脱水和酸中毒，进而发展为癫痫、昏迷和死亡。有两种表型表现形式，即急性重症型和慢性间歇型。急性重症型通常在婴儿早期导致死亡，而慢性间歇型患者在基线时无症状，但会出现急性代谢失代偿发作，通常在感染、体力消耗或摄入富含蛋白质食物的情况下发生。本病例说明了导致有机酸血症的先天性代谢缺陷如何在成人中表现，以及内科医生为何需要了解这些疾病。
