新型HADHA突变引起的线粒体三功能蛋白缺乏引起的神经肌病

Amit Vatkar, Nishigandha Joshi, Smita G. Patil, Mumtaz Shariff
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引用次数: 0

摘要

线粒体三功能蛋白缺乏症(MTP缺乏症或MTPD)是一种罕见的长链脂肪酸氧化常染色体隐性遗传病。其特点是新生儿表现严重,如心肌病、低血糖、代谢性酸中毒、骨骼肌病、神经病变、肝病和死亡。它也可表现为轻度症状,如周围多神经病变、发作性横纹肌溶解和色素视网膜病变。周围神经病变是已知的MTPD的长期不可逆并发症。我们报告一例罕见的5岁男童缓慢进行性肢体无力;遗传分析提示MTPD伴HADHA基因突变。本研究全面分析了这些病例,包括外显子组测序,据我们所知,描述了在印度首次观察到的导致这种疾病的HADHA基因纯合子新突变。
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Neuromyopathy due to mitochondrial trifunctional protein deficiency caused by novel HADHA mutation
Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is a rare autosomal recessive disorder of oxidation of long-chain fatty acids. It is characterized by severe neonatal manifestations such as cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy, neuropathy, liver disease, and death. It can also present with mild symptoms such as peripheral polyneuropathy, episodic rhabdomyolysis, and pigmentary retinopathy. Peripheral neuropathy is a known and long-term irreversible complication of MTPD. We report a rare case of a 5-year-old male child with slowly progressive limb weakness; genetic analysis was suggestive of MTPD with novel HADHA gene mutation. The present study comprehensively analyzed the cases, including exome sequencing, to the best of our knowledge, describing the first observation of homozygous novel mutation in the HADHA gene underlying this disorder in India.
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