新生儿肉碱及其代谢的重要性:文献回顾和临床病例

Тetiana Znamenska, Оlha Vorobiova, Т. Holota, Y. Marushko, V. Pokhylko
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引用次数: 0

摘要

目的:对新生儿内源性和外源性肉碱的形成过程、代谢和功能进行文献分析。材料和方法:回顾性分析导致原发性和继发性肉碱缺乏的病理条件的文献资料和国际临床建议。临床病例的儿童怀疑系统性肉毒碱缺乏症是提出。结论:根据引起肉毒碱缺乏的原因,可分为原发性和继发性肉毒碱缺乏。原发性肉碱缺乏是一种罕见的疾病,可导致代谢失代偿、肌肉和心肌病以及猝死。继发性肉碱缺乏可由遗传决定的先天性代谢缺陷、底物摄入不足、获得性障碍、早产儿生化途径不成熟、肾功能衰竭或医源性暴露引起。熟悉新生儿肉碱缺乏的主要原因将更有效地发现和纠正这种情况的临床表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
THE IMPORTANCE OF CARNITINE AND ITS METABOLISM IN NEWBORN: LITERATURE REVIEW AND CLINICAL CASE
Aim: To analyze the literature on the processes of formation of endogenous and exogenous carnitine, its metabolism and function in the newborn. Material and methods: The literature data and international clinical recommendations for pathological conditions leading to primary and secondary carnitine deficiency have been retrospectively analyzed. A clinical case of a child with suspected systemic carnitine deficiency is presented. Conclusions: Depending on the reasons that led to carnitine deficiency, there are primary and secondary carnitine deficiency. Primary carnitine deficiency is a rare condition that can lead to metabolic decompensation, muscular and cardiac myopathy, and sudden death. Secondary carnitine deficiency can be caused by a genetically determined congenital metabolic defect, insufficient substrate intake, acquired disorder, immaturity of the biochemical pathway in premature infants, renal failure or iatrogenic exposure. Familiarization with the main causes of carnitine deficiency in newborns will more effectively detect and correct the clinical manifestations of this condition.
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