Primary carnitine deficiency and cardiomyopathy.

doi:10.7504/ek2014100605

Abstract

Abstract:

Abstracts： L-carnitine is an essential vitamin for the transfer of long-chain fatty acids from the cytosol into mitochondria for β-oxidation. Carnitine deficiency results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency due to defective carnitine transporter OCTN2 caused by SLC22A5 gene mutations is an autosomal recessive disorder of mitochondrial β-oxidation. It is a rare but treatable disease of metabolic myopathies. The onset could occur in the patients with primary carnitine deficiency at any ages under a broad clinical spectrum. In infancy, metabolic decompositions occurred triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis. Hypoketotic hypoglycemia, metabolic acidosis, hyperammonemia and hyperuricemia were common findings. Some patients may be combined with cardiac arrhythmia, heart failure, fatty liver and brain damage. From children to adults, progressive or acute cardiomyopathy and skeletal myopathy have been reported worldwide. Early recognition of the disease and treatment with L-carnitine supplementation are keys to life-saving.

Key words: primary carnitine deficiency, cardiomyopathy, L-carnitine, carnitine transporter, SLC22A5 gene

摘要：

左旋肉碱（又称左卡尼汀，简称肉碱）是协助长链脂肪酸从细胞质转运至线粒体进行β氧化的重要物质。肉碱缺乏导致长链脂肪酸代谢障碍，尤其是在饥饿和应激情况下导致能量产生不足。原发性肉碱缺乏症属常染色体隐性遗传病，SLC22A5基因突变导致肉碱转运蛋白OCTN2缺陷，引起线粒体脂肪酸β氧化障碍，是少数可治疗的代谢性肌肉病之一。原发性肉碱缺乏症患者可在任何年龄阶段起病，轻重不一，个体差异显著。婴儿期可在上呼吸道感染、胃肠炎等普通疾病诱发下出现急性代谢紊乱，常见低酮症性低血糖、代谢性酸中毒、高尿酸血症，一些患儿伴心律紊乱、心功能衰竭、脂肪肝、脑损害。在儿童至成人可表现为慢性进行性或急性心肌病及骨骼肌肌肉病，早期诊断、左卡尼汀支持治疗是挽救生命的关键。

关键词: 原发性肉碱缺乏症, 心肌病, 左卡尼汀, 肉碱转运蛋白, SLC22A5基因

CLC Number:

Ｒ72

MA Yan-yan, YANG Yan-ling.. Primary carnitine deficiency and cardiomyopathy.[J]. Acta Metallurgica Sinica, DOI: 10.7504/ek2014100605.

马艳艳，杨艳玲. 原发性肉碱缺乏症与心肌病[J]. 中国实用儿科杂志, DOI: 10.7504/ek2014100605.

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