钴胺素C代谢紊乱的多种临床表现

IF 0.8 Q4 CLINICAL NEUROLOGY
Iranian Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2025-03-11 DOI:10.22037/ijcn.v19i2.45047
Hosein Eslamiyeh
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引用次数: 0

摘要

钴胺素,俗称维生素B12,是一种重要的微量营养素,主要由少数微生物合成。在人体中,维生素B12(钴胺素)是DNA合成所必需的,也是两种至关重要的酶——甲基丙二酰辅酶a变化酶和蛋氨酸合成酶——发挥作用的辅助因子。这些钴胺衍生物辅酶的缺乏导致酶活性障碍和它们各自的底物甲基丙二酸和同型半胱氨酸的积累,损害大脑和许多其他器官。此外,缺乏这种微量营养素可导致广泛的血液和神经精神疾病。除了维生素B12缺乏外,一些遗传性疾病还会阻碍细胞内钴胺素合成其辅助因子的过程,从而导致类似维生素B12缺乏的症状。这些疾病被称为钴胺素代谢障碍。如果及早诊断并及时治疗,其中许多是可逆的。这一群体最常见和最了解的疾病是钴胺素C (CblC)代谢紊乱。本病例系列报告旨在全面概述CblC代谢障碍的各种临床表现,并介绍两例迟发性表现,共济失调和反复发作为该疾病的第一表现。很少有病例报告,特别是在儿童中,将小脑性共济失调和癫痫发作描述为迟发性CblC代谢障碍的第一表现。此外,本报告旨在通过强调及时识别和有针对性的临床和治疗干预的潜在领域,从而加强对受CblC代谢紊乱影响的个体的综合护理和支持,从而对现有文献做出贡献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diverse Clinical manifestations of Cobalamin C Metabolism Disorders.

Cobalamin, commonly known as vitamin B12, is a crucial micronutrient synthesized predominantly by a few microorganisms. In the human body, Vitamin B12 (Cobalamin) is essential for DNA synthesis and is required as a cofactor for functioning two crucial enzymes, methylmalonyl-CoA mutase and methionine synthase. The deficiency in these cobalamin-derivated coenzymes leads to enzyme activity dysfunction and an accumulation of their respective substrates, methylmalonic acid, and homocysteine,harming the brain and many other organs. Furthermore, deficiency in this micronutrient can lead to a wide spectrum of hematologic and neuropsychiatric disorders. In addition to vitamin B12 deficiency, some genetic disorders block the intracellular processing of Cobalamin to its cofactors and lead to symptoms somewhat similar to vitamin B12 deficiency. These disorders are called Cobalamin metabolism disorders. Many of them are reversible when diagnosed early and treated promptly. This group's most common and well-understood disease is Cobalamin C (CblC) metabolism disorder. This case series report aimed to provide a comprehensive overview of diverse clinical presentations within the spectrum of CblC metabolism disorder and the introduction of two cases of late-onset presentation with ataxia and repeated seizures as the first manifestation of the disorder. Few case reports are available, specifically in children, describing cerebellar ataxia and seizure as the first manifestations of late-onset CblC metabolism disorder. Additionally, this report sought to contribute to the existing literature by highlighting potential areas for timely recognition and targeted clinical and therapeutic interventions, thereby enhancing the comprehensive care and support for individuals affected by CblC metabolism disorder.

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CiteScore
1.40
自引率
0.00%
发文量
35
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