Wilson W G, Cass M B, Søvik O, Gibson K M, Sweetman L
Eur J Pediatr. 1984 Sep;142(4):289-91. doi: 10.1007/BF00540255.
A five-year-old-girl with a history of recurrent hypoglycemia presented with acidosis, intractable vomiting, and abdominal tenderness; the diagnosis of acute pancreatitis was made by abdominal ultrasonography and supportive biochemical studies. Urinary organic acid analysis revealed metabolites suggestive of HMG-CoA lyase deficiency, and subsequent enzyme assays of lymphocytes and fibroblasts confirmed this diagnosis. Acute pancreatitis, an uncommon condition in childhood, is seen with increased frequency in patients with Reye syndrome, a metabolic disorder with which HMG-CoA lyase deficiency may be confused. The pathogenesis of pancreatitis in Reye syndrome or in HMG-CoA lyase deficiency has not been determined.
一名有反复低血糖病史的五岁女童出现酸中毒、顽固性呕吐和腹部压痛；通过腹部超声检查和支持性生化检查诊断为急性胰腺炎。尿有机酸分析显示代谢产物提示3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏，随后淋巴细胞和成纤维细胞的酶测定证实了这一诊断。急性胰腺炎在儿童期并不常见，在瑞氏综合征患者中出现频率增加，瑞氏综合征是一种代谢紊乱疾病，可能与3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏相混淆。瑞氏综合征或3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏中胰腺炎的发病机制尚未确定。
