Fu Xiaona, Zheng Feixia, Zhang Yao, Bao Xinhua, Wang Shuang, Yang Yanling, Xiong Hui
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
The Second Affiliated Hospital &Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, China.
Mol Genet Metab Rep. 2015 Nov 6;5:80-84. doi: 10.1016/j.ymgmr.2015.10.015. eCollection 2015 Dec.
We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, an autosomal recessive fatty acid oxidation disorder caused by or mutations, had not been definitively diagnosed before she was referred to our hospital. Repeated blood acylcarnitine analysis revealed slightly increased long-chain 3-OH-acylcarnitine levels; electromyography (EMG) suggested peripheral nerve injury; muscle biopsy confirmed a neurogenic lesion in muscle fibers, as shown by EMG. Analysis of the , which encodes long-chain 3-ketoacyl-CoA thiolase, one of the enzymes constituting mitochondrial trifunctional protein, identified homozygous missense mutation c.739C > T (p.R247C). Mitochondrial trifunctional protein deficiency is an extremely rare disorder and has not been reported in Chinese people to date. It is likely that neonatal onset, as seen in our patient, has not been reported for the neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.
我们报告了一名自出生以来就患有下肢无力的8岁女孩，在她被转诊到我院之前，线粒体三功能蛋白（MTP）缺乏症（一种由 或 突变引起的常染色体隐性脂肪酸氧化障碍）尚未得到明确诊断。反复进行的血液酰基肉碱分析显示长链3-OH-酰基肉碱水平略有升高；肌电图（EMG）提示周围神经损伤；肌肉活检证实肌纤维存在神经源性病变，如肌电图所示。对编码长链3-酮酰基辅酶A硫解酶（构成线粒体三功能蛋白的酶之一）的 进行分析，发现了纯合错义突变c.739C>T（p.R247C）。线粒体三功能蛋白缺乏症是一种极其罕见的疾病，迄今为止在中国人群中尚未有报道。像我们的患者这样新生儿期发病的线粒体三功能蛋白缺乏症的神经肌肉病表型可能尚未见报道。
