Vitamine B12 deficiency in children : a diagnostic challenge

Vlaenderen, Joke Van; Christiaens, Johan; Winckel, Myriam Van; Bruyne, Ruth De; Velde, Saskia Vande; Biervliet, S. Van

doi:10.51821/84.1.753

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…In contrast to widespread belief, children may also develop B12 deficiency. 30 In recent years, we have counselled several families where the mother and one or more children had established B12 deficiency despite normal nutrition with sufficient dietary B12 intake. In many such families, it could be ascertained that B12 deficiency was present in the mother during pregnancy.…”

Section: Impaired B12 Absorptionmentioning

confidence: 99%

A Brief Overview of the Diagnosis and Treatment of Cobalamin (B12) Deficiency

Wolffenbuttel,

McCaddon,

Ahmadi

et al. 2024

Food Nutr Bull

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Background: An increasing number of adult individuals are at risk of vitamin B12 deficiency, either from reduced nutritional intake or impaired gastrointestinal B12 absorption. Objective: This study aims to review the current best practices for the diagnosis and treatment of individuals with vitamin B12 deficiency. Methods: A narrative literature review of the diagnosis and treatment of vitamin B12 deficiency. Results: Prevention and early treatment of B12 deficiency is essential to avoid irreversible neurological consequences. Diagnosis is often difficult due to diverse symptoms, marked differences in diagnostic assays' performance and the unreliability of second-line biomarkers, including holo-transcobalamin, methylmalonic acid and total homocysteine. Reduced dietary intake of B12 requires oral supplementation. In B12 malabsorption, oral supplementation is likely insufficient, and parenteral (i.e. intramuscular) supplementation is preferred. There is no consensus on the optimal long-term management of B12 deficiency with intramuscular therapy. According to the British National Formulary guidelines, many individuals with B12 deficiency due to malabsorption can be managed with 1000 µg intramuscular hydroxocobalamin once every two months after the initial loading. Long-term B12 supplementation is effective and safe, but responses to treatment may vary considerably. Clinical and patient experience strongly suggests that up to 50% of individuals require individualized injection regimens with more frequent administration, ranging from daily or twice weekly to every 2-4 weeks, to remain symptom-free and maintain a normal quality of life. ‘Titration’ of injection frequency based on measuring biomarkers such as serum B12 or MMA should not be practiced. There is currently no evidence to support that oral/sublingual supplementation can safely and effectively replace injections. Conclusions: This study highlights the interindividual differences in symptomatology and treatment of people with B12 deficiency. Treatment follows an individualized approach, based on the cause of the deficiency, and tailored to help someone to become and remain symptom-free.

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Section: Impaired B12 Absorptionmentioning

confidence: 99%

A Brief Overview of the Diagnosis and Treatment of Cobalamin (B12) Deficiency

Wolffenbuttel,

McCaddon,

Ahmadi

et al. 2024

Food Nutr Bull

View full text Add to dashboard Cite

show abstract

“…The more specific of the two markers of B12 deficiency, homocysteine (Hcy), and MMA, is elevated MMA. Elevated MMA suggests a vitamin B12 deficiency [ 22 ]. According to a recent study, holoTC is a promising first-line test for determining vitamin B12 deficiency.…”

Section: Reviewmentioning

confidence: 99%

The Effects of Proton Pump Inhibitors in Acid Hypersecretion-Induced Vitamin B12 Deficiency: A Systematic Review (2022)

Swarnakari¹,

Bai²,

Manoharan³

et al. 2022

Cureus

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Gastroesophageal reflux disease (GERD) is the most common disease, for which proton pump inhibitors (PPIs) are a widely used class of drugs. Due to their efficacy and relative safety profile, PPIs are used chronically by GERD patients. Although it is a safe drug, particular attention focuses on the long-term adverse effects of PPI. The association with vitamin deficiencies has received additional focus since chronic PPI treatment increases the incidence of vitamin B12 deficiency, especially in the elderly. However, numerous studies regarding the establishment of an association between PPI and vitamin B12 status revealed conflicting results.In this systematic review, we systematically examined observational studies that focused on the impact of chronic PPI effects on vitamin B12 absorption and diagnostic biomarkers of vitamin B12 deficiency. Our review showed significant changes in diagnostic biomarkers of vitamin B12 status in long-term PPI users, including elevated homocysteine and methylmalonic acid (MMA) concentration levels defining cellular vitamin B12 deficiency. Although there is uncertainty regarding the exact mechanism, it supports the concept that long-term intake of PPI can have clinical implications for vitamins.

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Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy

Di Sario,

Piloni,

Gasparini

et al. 2024

Ital J Pediatr

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Background Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria. IGS is caused by a disfunction of the cubam receptor, which mediates the reabsorption of cobalamin in the ileum and the reuptake of albumin in renal proximal tubules. Case presentation We describe the case of a 23-month-old-italian infant presenting with severe pancytopenia and failure to thrive in whom the diagnosis of IGS was made and vitamin B12 replacement therapy was resolutive. Genetic analysis (NGS with CNV analysis including 214 genes involved in bone marrow failure and anemia), showed the presence of two pathogenetic variants in the AMN gene (c-208–2 A > G and c.1006 + 34_1007-31del). These variants have been previously described in the literature, but their combination has never been reported. Conclusions Imerslund-Gräsbeck syndrome should be considered in the differential diagnosis of children with severe pancytopenia even in those without neurological involvement. This case emphasizes the importance of an early diagnosis and prompt treatment, to prevent irreversible neurological injury.

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Vitamine B12 deficiency in children : a diagnostic challenge

Cited by 3 publications

References 15 publications

A Brief Overview of the Diagnosis and Treatment of Cobalamin (B12) Deficiency

A Brief Overview of the Diagnosis and Treatment of Cobalamin (B12) Deficiency

The Effects of Proton Pump Inhibitors in Acid Hypersecretion-Induced Vitamin B12 Deficiency: A Systematic Review (2022)

Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy

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