Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency

L Hannibal, V Lysne, AL Bjørke-Monsen… - Frontiers in molecular …, 2016 - frontiersin.org
Vitamin B12 (cobalamin, Cbl, B12) is an indispensable water-soluble micronutrient that
serves as a coenzyme for cytosolic methionine synthase (MS) and mitochondrial …

Vitamin B12 transport from food to the body's cells—a sophisticated, multistep pathway

MJ Nielsen, MR Rasmussen, CBF Andersen… - Nature reviews …, 2012 - nature.com
Abstract Vitamin B12 (B12; also known as cobalamin) is a cofactor in many metabolic
processes; deficiency of this vitamin is associated with megaloblastic anaemia and various …

Guidelines for the diagnosis and treatment of cobalamin and folate disorders

V Devalia, MS Hamilton, AM Molloy… - British journal of …, 2014 - Wiley Online Library
Summary of key recommendations The clinical picture is the most important factor in
assessing the significance of test results assessing cobalamin status because there is no …

Inborn errors of cobalamin absorption and metabolism

D Watkins, DS Rosenblatt - … Journal of Medical Genetics Part C …, 2011 - Wiley Online Library
Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …

Transcobalamin receptor antibodies in autoimmune vitamin B12 central deficiency

JV Pluvinage, T Ngo, C Fouassier… - Science translational …, 2024 - science.org
Vitamin B12 is critical for hematopoiesis and myelination. Deficiency can cause neurologic
deficits including loss of coordination and cognitive decline. However, diagnosis relies on …

Homocysteine and disease: causal associations or epiphenomenons?

L Hannibal, HJ Blom - Molecular Aspects of Medicine, 2017 - Elsevier
Nutritional and genetic deficiencies of folate and vitamin B 12 lead to elevation of cellular
homocysteine (Hcy), which translates in increased plasma Hcy. The sources and role of …

Genetic disorders of vitamin B12 metabolism: eight complementation groups–eight genes

DS Froese, RA Gravel - Expert reviews in molecular medicine, 2010 - cambridge.org
Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic
diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn …

[HTML][HTML] Isolated methylmalonic acidemia

I Manoli, JL Sloan, CP Venditti - 2016 - europepmc.org
For this GeneReview, the term" isolated methylmalonic acidemia" refers to a group of inborn
errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in …

The clinical presentation of cobalamin‐related disorders: from acquired deficiencies to inborn errors of absorption and intracellular pathways

M Huemer, MR Baumgartner - Journal of inherited metabolic …, 2019 - Wiley Online Library
This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …

[HTML][HTML] Perspective: the high-folate–low-vitamin B-12 interaction is a novel cause of vitamin B-12 depletion with a specific etiology—a hypothesis

J Selhub, JW Miller, AM Troen, JB Mason… - Advances in …, 2022 - Elsevier
Vitamin B-12 is a water-soluble vitamin that plays important roles in intermediary
metabolism. Vitamin B-12 deficiency has many identifiable causes, including autoimmune …