Lehnert W
University Children's Hospital, Freiburg, Federal Republic of Germany.
Padiatr Padol. 1993;28(1):9-12.
MCADD is an autosomal recessively transmitted inborn error of C6-C12-carboxylic acid metabolism, causing episodically attacks of life threatening hypoketotic hypoglycemia or Reye-syndrome-like disease. Diagnosis is made best by investigating urinary organic acids before and after a load with 3-phenylpropionate. From 1986 until now 29 patients with MCADD were detected in Freiburg by selective screening for inherited metabolic disorders; 27 of them were confirmed by challenging with 3-phenylpropionic acid. The remaining two patients were not available for further investigations. The 3-phenylpropionate loading test is recommended in patients suffering from recurrent attacks of hypoketotic hypoglycemia and in families, where sudden infant death syndrome (SIDS) or near miss SIDS has occurred.
中链酰基辅酶A脱氢酶缺乏症（MCADD）是一种常染色体隐性遗传的C6 - C12羧酸代谢先天性缺陷病，可引发危及生命的间歇性低酮性低血糖发作或类瑞氏综合征疾病。最佳诊断方法是在给予3 - 苯丙酸负荷前后检测尿有机酸。从1986年至今，弗赖堡通过对遗传性代谢疾病进行选择性筛查，共检测出29例MCADD患者；其中27例经3 - 苯丙酸激发试验得到确诊。其余两名患者无法进行进一步检查。对于反复出现低酮性低血糖发作的患者以及发生过婴儿猝死综合征（SIDS）或近乎SIDS情况的家庭，建议进行3 - 苯丙酸负荷试验。
