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泛酸代谢与泛酸缺乏症

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泛酸又称维生素B5,是哺乳动物细胞中辅酶A(coenzyme A,CoA)和醜基载体蛋白(acyl carrier protein,ACP)生物合成所必需的维生素,通过合成CoA和ACP,参与脂肪酸、碳水化合物、胆固醇、乙酰胆碱等合成或分解代谢.泛酸的吸收与生物素等共用一种膜转运系统,其转运或代谢障碍可导致线粒体功能损害及代谢紊乱.目前,对于泛酸尚无标准化的推荐摄入量,虽然原发性泛酸缺乏症罕见,但是继发性泛酸缺乏较为常见,如PANK2基因突变及线粒体病患者常存在泛酸缺乏.泛酸缺乏可导致多系统损害,且临床表现无特异性.补充泛酸有助于防治多种罕见及常见疾病.
Pantothenic acid metabolism and pantothenic acid deficiency
Pantothenic acid,also known as vitamin B5,is an essential vitamin for the biosynthesis of coenzyme A(CoA)and acyl carrier protein(ACP)in mammalian cells.It participates in the synthesis or catabolism of fatty acids,carbohydrates,cholesterol,acetylcholine and other metabolites through the synthesis of CoA and ACP.The absorption of pantothenic acid is dependent on a membrane transport system that is shared with other compounds,including biotins.Impairment of this transport system or its metabolic processes can result in mitochondrial dysfunction and metabolic disorders.At present,there is no established recommended intake volume for pantothenic acid.Although primary pantothenic acid deficiency is uncommon,secondary pantothenic acid deficiency is common,such as in the patients with PANK2 gene mutations and mitochondrial diseases.Pantothenic acid deficiency can result in multi-system damage,and the clinical presentation is not specific.The pantothenic acid supplem-entation is helpful for the prevention and treatment of many rare and common diseases.

pantothenic acidvitamin B5pantothenic acid deficiencypantothenate kinasemitochondria

张振坤、杨艳玲、李东晓

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郑州大学附属儿童医院(河南省儿童医院郑州儿童医院)河南省儿科疾病临床研究中心河南省儿童神经发育工程研究中心,河南郑州 450018

北京大学第一医院儿童医学中心,北京 102600

泛酸 维生素B5 泛酸缺乏症 泛酸激酶 线粒体

国家自然科学基金项目国家重点研发计划

820008502021YFC2700903

2024

中国实用儿科杂志
中国医师协会,中国实用医学杂志社

中国实用儿科杂志

CSTPCD北大核心
影响因子:1.314
ISSN:1005-2224
年,卷(期):2024.39(10)