Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.
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一个中国家系因HADHB基因突变导致线粒体三功能蛋白缺乏
DOI：
10.1016/j.ymgmr.2015.10.015
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发表时间：
2015-12
影响因子：
1.9
通讯作者：
Xiong H
中科院分区：
文献类型：
--
作者：
Fu X;Zheng F;Zhang Y;Bao X;Wang S;Yang Y;Xiong H
我们报告了一名自出生以来下肢无力的 8 岁女孩，她在转诊到我们医院之前尚未明确诊断出线粒体三功能蛋白（MTP）缺乏症，这是一种由 HADHA 或 HADHB 突变引起的常染色体隐性脂肪酸氧化障碍。重复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-酮脂酰辅酶 A 硫解酶（构成线粒体三功能蛋白的酶之一）的 HADHB 进行分析，鉴定出纯合错义突变 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，迄今为止在中国人中尚未有报道。正如本例患者所见，线粒体三功能蛋白缺乏症的神经肌病表型很可能在新生儿期发病。
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 HADHA or HADHB 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 HADHB, 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.