Recurrent acute pancreatitis associated with propionic acidemia
Recurrent acute pancreatitis associated with propionic acidemia
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DOI：
10.1097/mpg.0b013e3181132252
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发表时间：
2008-09-01
影响因子：
2.9
通讯作者：
Husain, Sohail Z.
中科院分区：
文献类型：
--
作者：
Bultron, Gilberto;Seashore, Margretta R.;Husain, Sohail Z.
丙酸血症(PA)是一种严重的婴幼儿代谢紊乱(1)，由线粒体酶丙酰辅酶A羧基酶(PCC)缺陷引起。PA以常染色体隐性遗传方式遗传。患者会出现代谢性酸中毒、酮症、癫痫发作和智力低下。急性胰腺炎是一种潜在威胁生命的炎症性疾病，有许多已知的激发因素，包括代谢紊乱(2，3)。然而，尽管急性胰腺炎与PA(4，5)有关，但复发性急性胰腺炎是罕见的。我们报告一例婴幼儿PA，继发复发性急性胰腺炎。
Propionic acidemia (PA) is a severe metabolic disorder of infants and children (1), resulting from a defect in the mitochondrial enzyme propionyl-coenzyme A carboxylase (PCC). PA is inherited in an autosomal recessive manner. Patients experience metabolic acidosis, ketosis, seizures, and mental retardation. Acute pancreatitis is a potentially life-threatening inflammatory disorder that has many known inciting factors, including metabolic derangements (2,3). However, although acute pancreatitis has been associated with PA (4,5), recurrent acute pancreatitis is rare. We report a case of an infant with PA in whom recurrent acute pancreatitis developed.