The application and interpretation of laboratory biomarkers for the evaluation of vitamin B12 status.

IF 2.1 4区医学 Q3 MEDICAL LABORATORY TECHNOLOGY Annals of Clinical Biochemistry Pub Date : 2024-10-27 DOI:10.1177/00045632241292432

Dominic J Harrington, Emma Stevenson, Agata Sobczyńska-Malefora

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Abstract

Vitamin B₁₂ (cobalamin; B₁₂) is an essential micronutrient, but deficiency is common. The prompt diagnosis and treatment of B₁₂ deficiency protects against megaloblastic anaemia, neuropathy and neuropsychiatric changes. Biomarkers of B₁₂ status include the measurement of serum B₁₂ (also known as total B₁₂ or serum cobalamin), holotranscobalamin (holoTC or 'active B12'), methylmalonic acid (MMA) and total plasma homocysteine (Hcy). There is no 'gold standard' test for deficiency and the sensitivity and specificity of each biomarker for the evaluation of B₁₂ status is affected by analytical and biological factors that may confer a high degree of diagnostic uncertainty. Limited access to technical and clinical expertise can lead to an over-reliance on the serum B₁₂ test, which is readily available and highly automated. In some cases, the sequential use of different B₁₂ status biomarkers or the calculation of a composite B₁₂ status score, derived from a panel of B₁₂ biomarkers and adjusted for folate status and age, can be used to detect deficient states that may otherwise be overlooked when using a single biomarker approach. This review summarizes the utility of B₁₂-related biomarkers and describes approaches to their application and interpretation.

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评估维生素 B12 状态的实验室生物标志物的应用和解释。

维生素 B12（钴胺素；B12）是人体必需的微量营养素，但缺乏症很常见。及时诊断和治疗 B12 缺乏症可防止巨幼红细胞性贫血、神经病变和神经精神病变。B12 状态的生物标志物包括血清 B12（又称总 B12 或血清钴胺素）、全反式钴胺素（holoTC 或 "活性 B12"）、甲基丙二酸（MMA）和血浆总同型半胱氨酸（Hcy）的测定。目前还没有检测 B12 缺乏症的 "金标准"，每种生物标志物对 B12 状态评估的敏感性和特异性都受到分析和生物因素的影响，这些因素可能会导致诊断的高度不确定性。由于获得技术和临床专业知识的机会有限，可能会导致过度依赖血清 B12 检测，因为这种检测方法很容易获得，而且自动化程度很高。在某些情况下，连续使用不同的 B12 状态生物标志物或计算综合 B12 状态评分（由一组 B12 生物标志物得出，并根据叶酸状态和年龄进行调整）可用于检测缺乏状态，否则在使用单一生物标志物方法时可能会被忽略。本综述总结了与 B12 相关的生物标志物的效用，并介绍了应用和解释这些生物标志物的方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Clinical Biochemistry Biochemistry, Genetics and Molecular Biology-Clinical Biochemistry

CiteScore

5.20

自引率

4.50%

发文量

期刊介绍： Annals of Clinical Biochemistry is the fully peer reviewed international journal of the Association for Clinical Biochemistry and Laboratory Medicine. Annals of Clinical Biochemistry accepts papers that contribute to knowledge in all fields of laboratory medicine, especially those pertaining to the understanding, diagnosis and treatment of human disease. It publishes papers on clinical biochemistry, clinical audit, metabolic medicine, immunology, genetics, biotechnology, haematology, microbiology, computing and management where they have both biochemical and clinical relevance. Papers describing evaluation or implementation of commercial reagent kits or the performance of new analysers require substantial original information. Unless of exceptional interest and novelty, studies dealing with the redox status in various diseases are not generally considered within the journal''s scope. Studies documenting the association of single nucleotide polymorphisms (SNPs) with particular phenotypes will not normally be considered, given the greater strength of genome wide association studies (GWAS). Research undertaken in non-human animals will not be considered for publication in the Annals. Annals of Clinical Biochemistry is also the official journal of NVKC (de Nederlandse Vereniging voor Klinische Chemie) and JSCC (Japan Society of Clinical Chemistry).