Bennett M J, Pollitt R J, Taitz L S, Variend S
Department of Chemical Pathology, Children's Hospital, Sheffield, U.K.
Clin Chem. 1990 Sep;36(9):1695-7.
We report a family in whom a fatal case of medium-chain acyl-CoA dehydrogenase (MCAD; EC 1.3.99.3) deficiency was diagnosed by enzymatic analysis of heart tissue that had been stored for five years. Three healthy siblings underwent subsequent investigation with the 3-phenylpropionic acid loading test. All siblings had been asymptomatic; however, one (age 2.5 years) excreted large amounts of 3-phenylpropionylglycine in response to the load and exhibited an organic aciduria consistent with the diagnosis of MCAD deficiency. The other two siblings did not demonstrate 3-phenylpropionylglycinuria after the loading test. This case underlines the importance of considering family history and using appropriate diagnostic tests in the recognition of hereditary metabolic disorders.
我们报告了一个家庭，通过对保存了五年的心脏组织进行酶分析，诊断出一例中链酰基辅酶A脱氢酶（MCAD；EC 1.3.99.3）缺乏症致死病例。随后，三名健康的兄弟姐妹接受了3-苯丙酸负荷试验检查。所有兄弟姐妹此前均无症状；然而，其中一名（2.5岁）在负荷试验后排出大量3-苯丙酰甘氨酸，并表现出与MCAD缺乏症诊断相符的有机酸尿症。另外两名兄弟姐妹在负荷试验后未出现3-苯丙酰甘氨酸尿症。该病例强调了在识别遗传性代谢疾病时考虑家族史和使用适当诊断测试的重要性。
