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Vitamin B12 Deficiency Disease- Scientists find New Cause



What’s the cause of vitamin B12 deficiency disease? There are many factors that can interfere with absorption of this essential B vitamin, cobalamin. If you’ve had gastric bypass surgery, for instance, or if you frequently suffer from gastrointestinal disorders such as Crohn’s disease, then you’re a risky candidate for pernicious anemia, or vitamin B12 deficiency disease. Now, scientists believe they have discovered a genetic link to plummeting vitamin B12 levels.

Vitamin B12 Deficiency Disease- Scientists find New Cause- B12 Patch

Hereditary vitamin B12 deficiency

In a report on vitamin B12 deficiency disease published by Nature Genetics, researchers focused on an “inborn error of vitamin B12 metabolism” have isolated a gene believed to be essential for delivering vitamin B12 into the bloodstream.

According to Dr. David Rosenblatt of McGill University Health Centre in Canada, and one of the co-authors of this study, a “second transport protein” may provide a significant clue to understanding why hereditary vitamin B12 deficiency disease occurs for some people, and not others.

  • Researchers focused on vitamin B12 deficiency patients who exhibited signs of a defect in metabolizing vitamin B12 through the cblF gene.
  • Scientists later discovered a new gene- ABCD4- that they believe is crucial for digesting vitamin B12.
  • By investigating the patients’ genetic makeup, scientists confirmed mutations of the ABCD4 gene in both instances.
  • Scientists explain that the malfunctioning of the ABCD4 gene, essential for absorbing vitamin B12, directly causes “cblJ combined homocystinuria and methylmalonic aciduria,” or vitamin B12 deficiency disease.

Is Vitamin B12 Deficiency an Autoimmune Disorder? Yup.

Vitamin B12 deficiency risk factors

This is the first time that researchers have been able to positively include genetics as a possible cause of vitamin B12 deficiency disease; other causes include:

  • Autoimmune disorder involving intrinsic factor, another protein that is crucial for digesting vitamin B12 naturally from food sources.
  • Gastrointestinal damage caused by frequent vomiting, diarrhea, or stomach ulcers.
  • Bariatric surgery or ileostomy, which involves removal of the ileum- a necessary organ for accessing intrinsic factor.
  • Family history for pernicious anemia.
  • Gastrointestinal disorders, such as Irritable bowel syndrome (IBS), inflammatory bowel disease (IBD), fibromyalgia, or celiac disease.

Treatment options

Researchers hope to find a cure for hereditary vitamin B12 malabsorption; for now, patients diagnosed with severe vitamin B12 deficiency are instructed to take large doses of vitamin B12 supplements until vitamin B12 levels return to normal.

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Like this? Read more:

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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

New disease related to vitamin B12 deficiency discovered

Images courtesy of FreeDigitalPhotos.net

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