Elias E, Gray R G, Poulton K, Green A
Liver and Hepatobiliary Unit, Queen Elizabeth Hospital, Birmingham, UK.
J Hepatol. 1997 Feb;26(2):433-6. doi: 10.1016/s0168-8278(97)80063-3.
An adult male presented at 28 years of age with muscle weakness and liver dysfunction. His brother had died suddenly 2 years earlier after presenting with Reye's syndrome. Urine organic acid analysis and muscle and cultured fibroblast fatty acid oxidation studies confirmed a diagnosis of ethylmalonic/adipic aciduria-an inherited defect of fatty acid oxidation. The patient responded favourably to treatment with a low fat/high carbohydrate diet supplemented with riboflavin. This case highlights the importance of considering inborn errors of metabolism, in particular fatty acid oxidation defects, in adults with liver disease, muscle disease or Reye's syndrome.
一名28岁成年男性因肌肉无力和肝功能障碍前来就诊。他的哥哥在出现瑞氏综合征后于两年前突然去世。尿有机酸分析以及肌肉和培养的成纤维细胞脂肪酸氧化研究证实了乙基丙二酸/己二酸尿症的诊断，这是一种脂肪酸氧化的遗传性缺陷。该患者对低脂/高碳水化合物饮食并补充核黄素的治疗反应良好。这个病例凸显了在患有肝病、肌肉疾病或瑞氏综合征的成年人中考虑先天性代谢缺陷，尤其是脂肪酸氧化缺陷的重要性。
