Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

Ferrand, Amaryllis; Siu, Victoria Mok; Rupar, C. Anthony; Napier, Melanie; Al-Dirbashi, Osama Y.; Chakraborty, Pranesh; Prasad, Chitra

doi:10.1007/8904_2014_351

Cited by 4 publications

(5 citation statements)

References 21 publications

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“…Classically, the Imerslund-Gräsbeck syndrome is mentioned as an example of a genetic cause of vitamin B 12 deficiency due to selective malabsorption, but its prevalence is very low. Other causes may be mutations in the gene for intrinsic factor, 70 genes encoding the vitamin B 12 transporting transcobalamins,71, 72 and genes involving intracellular vitamin B 12 metabolism. The list of single-nucleotide polymorphisms associated with serum vitamin B 12 concentration is gradually increasing, and a recent review reported 59 gene polymorphisms found in a wide variety of populations, although the majority were reported in people of Western European descent 37 .…”

Section: Familial/genetic Causes Of Vitamin B12 Deficiencymentioning

confidence: 99%

The Many Faces of Cobalamin (Vitamin B12) Deficiency

Wolffenbuttel

Wouters

Heiner‐Fokkema

et al. 2019

Mayo Clinic Proceedings: Innovations, Quality & Outcomes

165

143

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Although cobalamin (vitamin B 12 ) 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 B 12 deficiency may be diverse and vary from neurologic to psychiatric. A number of individuals with vitamin B 12 deficiency may present with the classic megaloblastic anemia. In clinical practice, many cases of vitamin B 12 deficiency are overlooked or sometimes even misdiagnosed. In this review, we describe the heterogeneous disease spectrum of patients with vitamin B 12 deficiency in whom the diagnosis was either based on low serum B 12 levels, elevated biomarkers like methylmalonic acid and/or homocysteine, or the improvement of clinical symptoms after the institution of parenteral vitamin B 12 therapy. We discuss the possible clinical signs and symptoms of patients with B 12 deficiency and the various pitfalls of diagnosis and treatment.

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Section: Familial/genetic Causes Of Vitamin B12 Deficiencymentioning

confidence: 99%

The Many Faces of Cobalamin (Vitamin B12) Deficiency

Wolffenbuttel

Wouters

Heiner‐Fokkema

et al. 2019

Mayo Clinic Proceedings: Innovations, Quality & Outcomes

165

143

View full text Add to dashboard Cite

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“…Gastric IF deficiency (also called megaloblastic anemia type 1 or congenital pernicious anemia) due to GIF mutations is a very rare Cbl absorption defect. Mutations in GIF result in functionally impaired or diminished IF or even in its complete absence and consequently, Cbl concentrations are low. In contrast to the much more frequent autoimmune‐mediated pernicious anemia of the adult, no IF/parietal cell antibodies are present.…”

Section: Inborn Errors Of Cbl Absorption and Systemic Cbl Traffickingmentioning

confidence: 99%

“…Some patients have achieved complete clinical and biochemical remission treated with as little treatment as 1 mg intramuscular OH‐Cbl twice per year. Two siblings with GIF deficiency (one asymptomatic with elevated MMA, one symptomatic in his first year) have responded favorably to oral treatment. Nevertheless, from a cohort of 19 patients older than 6 years with TC deficiency, only the one patient treated with oral Cbl had impaired intellectual function while patients on intramuscular hydroxo (OH)‐ or CN‐Cbl (mostly 1 mg weekly) had a favorable neurocognitive outcome.…”

Section: Inborn Errors Of Cbl Absorption and Systemic Cbl Traffickingmentioning

confidence: 99%

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

Huemer

Baumgartner

2019

J of Inher Metab Disea

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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 absorption and intracellular trafficking, as well as methylenetetrahydrofolate dehydrogenase (MTHFD1) and methylene tetrahydrofolate reductase (MTHFR) deficiencies, which impair Cbl‐dependent remethylation. Acquired and inborn Cbl‐related disorders and MTHFR deficiency cause multisystem, often severe disease. Failure to thrive, neurocognitive or psychiatric symptoms, eye disease, bone marrow alterations, microangiopathy and thromboembolic events are characteristic. The recently identified MTHFD1 defect additionally presents with severe immune deficiency. Deficient Cbl‐dependent enzymes cause reduced methylation capacity and metabolite toxicity. Further net‐effects of perturbed Cbl function or reduced Cbl supply causing oxidative stress, altered cytokine regulation or immune functions are discussed.

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“…Only 75 gr of meat can easily supply the daily vitamin B 12 demand but 1000 ml of milk is necessary for the same purpose [4]. According to novel data nearly 30% of patients older than 50 years have vitamin B12 deficiency and Health Canada recommend fortified foods for these patients [5]. Interestingly, Gout is more common after fifth decade and diet is an important and routine approach in management of patients with Gout.…”

Section: Introductionmentioning

confidence: 99%

Cyanocobalamin and 25-Hydroxy Vitamin D Levels in Gout Patients: An Overlooked Issue

Yandı¹,

Gencer²,

Kılavuz³

et al. 2016

OJRA

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Gout is one of the most frequent type of inflammatory arthritis in developed countries. The elevation of serum uric acid levels and the deposition of monosodium urate crystals in joints and/or soft tissues are the mechanisms of pathogenesis. Uric acid is a product of the metabolic cleavage of purine nucleotides and organ meats, beef, pork, and lamb, anchovies, sardines, herring, mackerel, scallops, gravy and beer are known to be very rich in purine. On the other hand, some of these foods are also the main sources of vitamin B12 (cyanocobalamin). As a chronic inflammatory arthritis corticosteroids are frequently prescribed for gout patients, meaning a higher risk for osteoporosis which may be blocked by daily calcium and vitamin D replacement. However, there are no recommendations about screening or replacement of Gout patients for vitamin D and B12. Herein, we evaluated our patients retrospectively to document their vitamin levels and also to find the factors associated with vitamin deficiency. Totally, 90 patients, 71 (79.9%) male and 19 (20.1%) female patients with a median diagnostic age of 55 (19-80) were included. Thirty six (40%) patients were newly diagnosed (group 1) but 54 (60%) patients had established diseases (group-2) with median disease duration of 36 (11-240) months. Nearly half (47.2%) of the patients in group-1 and 37% of the patients in group-2 had vitamin B 12 deficiency. Similarly, 38.9% in each group had vitamin D deficiency and 52.8% in group-1 and 44.4% in group-2 had vitamin D insufficiency. In conclusion, we strongly recommend routine screening and replacement of vitamin B12 and D for patients with Gout.

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Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario

Cited by 4 publications

References 21 publications

The Many Faces of Cobalamin (Vitamin B12) Deficiency

The Many Faces of Cobalamin (Vitamin B12) Deficiency

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

Cyanocobalamin and 25-Hydroxy Vitamin D Levels in Gout Patients: An Overlooked Issue

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