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Although cobalamin (vitamin B12) deficiency was described over a century ago, it is still difficult to establish the correct diagnosis and prescribe the right treatment. Symptoms related to vitamin B12 deficiency may be diverse and vary from neurologic to psychiatric. A number of individuals with vitamin B12 deficiency may present with the classic megaloblastic anemia. In clinical practice, many cases of vitamin B12 deficiency are overlooked or sometimes even misdiagnosed. In this review, we describe the heterogeneous disease spectrum of patients with vitamin B12 deficiency in whom the diagnosis was either based on low serum B12 levels, elevated biomarkers like methylmalonic acid and/or homocysteine, or the improvement of clinical symptoms after the institution of parenteral vitamin B12 therapy. We discuss the possible clinical signs and symptoms of patients with B12 deficiency and the various pitfalls of diagnosis and treatment.
Pubmed ID: 31193945
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Worldwide authority that approves standardized nomenclature to gene name and symbol, short form abbreviation, for each known human gene and stores all approved symbols in HGNC database. Approved human gene nomenclature. Database of gene symbols. Manually curated genes into family sets based on shared characteristics such as homology, function or phenotype. Data for protein-coding genes, pseudogenes, non-coding RNAs, phenotypes and genomic features.
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