Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls
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DOI：
10.1007/s004310050063
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发表时间：
2000-04-01
影响因子：
3.6
通讯作者：
Ullrich, K
中科院分区：
文献类型：
--
作者：
Das, AM;Fingerhut, R;Ullrich, K
我们报告一个男孩谁遭受小头畸形，生长迟缓，心肌病和肝功能障碍。当他在3个月大时第一次发热感染时，他表现出代谢失代偿。实验室参数和临床特征与β-氧化缺陷或呼吸链疾病相符。β-氧化酶的测量显示长链3-羟酰辅酶A脱氢酶（LCHAD）缺乏;呼吸链复合物活性的测定显示骨骼肌中完全不存在复合物I、II、III和IV活性，培养的成纤维细胞中复合物II和IV的活性降低，伴有ATP合酶的继发性失调。结论该患者LCHAD缺乏症为原发性代谢紊乱，导致呼吸链酶被“毒性”代谢物继发性抑制。
We report on a boy who suffered from microcephaly, growth retardation, cardiomyopathy and hepatic dysfunction. When he had his first febrile infection at the age of 3 months he showed metabolic decompensation. Laboratory parameters and clinical features were compatible with a beta-oxidation defect or a respiratory chain disorder. Measurement of beta-oxidation enzymes showed long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency; determination of respiratory chain complex activities revealed complete absence of complex I, II, III and IV activities in skeletal muscle and reduced activities of complexes II and IV in cultured fibroblasts, with secondary dysregulation of ATP synthase. The patient was found to be homozygous for the MTP:G1528 C mutation (LCHAD-deficiency).Conclusion This patient had LCHAD deficiency as his primary metabolic disorder, leading to secondary inhibition of respiratory chain enzymes by 'toxic' metabolites.