更新于:2024-11-01

Systemic Carnitine Deficiency

全身性肉碱缺乏症

基本信息

别名
CARNITINE DEFICIENCY, PRIMARY、CARNITINE DEFICIENCY, SYSTEMIC PRIMARY、CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
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简介
An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.

分析

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对领域进行一次全面的分析。
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