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The Many Faces of Cobalamin (Vitamin B₁₂) Deficiency.

ABSTRACT: 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.

SUBMITTER: Wolffenbuttel BHR

PROVIDER: S-EPMC6543499 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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The Many Faces of Cobalamin (Vitamin B12) Deficiency.

Wolffenbuttel Bruce H R BHR Wouters Hanneke J C M HJCM Heiner-Fokkema M Rebecca MR van der Klauw Melanie M MM

Mayo Clinic proceedings. Innovations, quality & outcomes 20190527 2

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 sometim ...[more]

PMID: 31193945

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Project description:Vitamin B12 deficiency, mostly of maternal origin in newborns, is a well-treatable condition but can cause severe neurologic sequelae in infants. Early detection of vitamin B12 deficiency allows the pre-symptomatic treatment of affected children. This evaluation assesses the characteristics of maternal vitamin B12 deficiency detected by newborn screening. In a prospective single-center study, a systematic screening strategy for vitamin B12 deficiency using a combination of two second-tier strategies was applied. In addition to confirmatory diagnostics in children, the systematic work-up of vitamin B12 status was also performed for their mothers. Maternal characteristics were assessed including ethnic origin, diet, and vitamin supplementation during pregnancy. For affected mothers, a work-up by internal medicine was recommended. In total, 121 mother-infant couples were analyzed. 66% of mothers adhered to a balanced diet including meat. The cause of maternal vitamin B12 deficiency was unknown in 56% of cases, followed by dietary causes in 32%, and organic causes in 8%. All mothers following a vegan diet and most mothers with a vegetarian diet took vitamin preparations during pregnancy, whereas only 55.8% of mothers with a balanced diet took folic acid or other vitamins. Maternal vitamin B12, folic acid, and homocysteine levels were significantly correlated with the child's folic acid levels, and with homocysteine, methylmalonic, and methylcitric acid levels in first and second NBS dried blood spots. Most children had normal blood counts and showed normocytosis. Although 36.7% of mothers showed anemia, only one presented with macrocytosis. Adherence to vitamin supplementation in pregnancy is low despite the recommendation for supplementation of folic acid. Ideally, the evaluation of mothers for vitamin B12 levels and appropriate therapy should be initiated in early pregnancy. In infants detected through newborn screening, the multidisciplinary assessment and therapy of both children and mothers should be performed.

Dataset Information

The Many Faces of Cobalamin (Vitamin B₁₂) Deficiency.

Publications

The Many Faces of Cobalamin (Vitamin B<sub>12</sub>) Deficiency.

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