Primary carnitine deficiency is a fatty acid oxidation disorder caused by mutations in the SLC22A5 gene. The role of carnitine is to help the long-chain fatty acids cross the inner mitochondrial membrane for subsequent p-oxidation. Carnitine deficiency results in decreased energy production and fatty acids accumulation in the cytosol. especially when fatty acids mobilized from adipose tissue become the predominant energy source, which can lead to metabolic disturbance and organic damage. The clinical manifestations include hypoketotie hypoglyccmia, dilated cardiomyopathy, lipid storage myopathy, hepatomegaly, and so on. Diagnosis of the disease relies on the measurement of blood free carnitine and acylcarnitines by tandem mass spectrometry, and SLC22A5 gene mutation test. L-carnitine is the main drug for this disease and, the majority of patients can fully recover after treatment.%原发性肉碱缺乏症是SLC22A5基因突变所致的脂肪酸氧化代谢病.肉碱缺乏导致长链脂肪酸不能进入线粒体参与β氧化,尤其当机体需要脂肪动员供能时不能提供足够能量,且脂肪酸蓄积在细胞内,引起代谢紊乱和脏器损伤,临床上可出现低酮型低血糖、扩张型心肌病、脂质沉积性肌病、肝肿大等.诊断依靠串联质谱检测血游离肉碱、酰基肉碱水平及基因突变检测.左旋肉碱是治疗该病的主要药物,大部分患者治疗后可完全恢复健康.
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