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Related Concept Videos

Vitamins01:30

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Role of Vitamins in Maintaining Bone Health01:25

Role of Vitamins in Maintaining Bone Health

The growth and maintenance of bone are regulated by a combination of nutritional factors, including vitamins, such as vitamin A, B12, C, D, and K.
Vitamin A
Vitamin A is involved in the process of bone remodeling. Retinoic acid, the active metabolite of Vitamin A, has nuclear receptors in osteoblasts and osteoclasts, which are involved in bone remodeling.
Vitamin B12
Vitamin B12 acts as a cofactor during the formation of osteoblast-related proteins, such as osteocalcin. Vitamin B12 plays a role...
Minerals01:26

Minerals

Minerals are essential nutrients that the human body needs in small amounts to work properly. They play a vital role in many bodily functions, such as building strong bones and transmitting nerve impulses. Some minerals are needed for hormone production or to maintain a normal heartbeat. Major minerals include calcium, phosphorus, potassium, sulfur, sodium, chlorine, and magnesium, while trace minerals include iron, manganese, copper, iodine, zinc, cobalt, fluoride, and selenium.
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...

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Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Cobalamin deficiency.

Wolfgang Herrmann1, Rima Obeid

  • 1Department of Clinical Chemistry and Laboratory Medicine, University of Saarland, 66421, Homburg, Germany, kchwher@uniklinik-saarland.de.

Sub-Cellular Biochemistry
|November 26, 2011
PubMed
Summary
This summary is machine-generated.

Vitamin B12 deficiency, or cobalamin deficiency, is common and can be diagnosed early using holotranscobalamin (holoTC) and methylmalonic acid (MMA) blood tests. Early diagnosis and treatment of cobalamin deficiency prevent irreversible neurological damage.

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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

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Last Updated: May 27, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Area of Science:

  • Biochemistry
  • Nutrition Science
  • Clinical Diagnostics

Background:

  • Cobalamin (vitamin B12) is essential, synthesized only by microorganisms, and obtained through animal-sourced foods.
  • It acts as a cofactor in vital mammalian enzymatic reactions, including methionine synthase and methylmalonyl-CoA-mutase.
  • Cobalamin deficiency is a global health concern, particularly prevalent in the elderly and vegetarians, often due to malabsorption or low dietary intake.

Purpose of the Study:

  • To highlight the limitations of total serum cobalamin in diagnosing deficiency.
  • To emphasize the utility of holotranscobalamin (holoTC) as an early indicator of cobalamin status.
  • To underscore the importance of homocysteine (tHcy) and methylmalonic acid (MMA) as functional markers and advocate for their combined use with holoTC for accurate diagnosis.

Main Methods:

  • Review of cobalamin metabolism and absorption pathways.
  • Analysis of serum cobalamin, holotranscobalamin (holoTC), homocysteine (tHcy), and methylmalonic acid (MMA) as diagnostic markers.
  • Evaluation of diagnostic marker sensitivity and specificity, considering factors like renal dysfunction.

Main Results:

  • Total serum cobalamin lacks sensitivity and specificity for diagnosing deficiency, leading to potential underdiagnosis.
  • Serum holotranscobalamin (holoTC) decreases earlier than total cobalamin in deficiency states.
  • Elevated MMA and tHcy levels indicate functional cobalamin deficiency, with combined holoTC and MMA assays offering improved diagnostic accuracy.

Conclusions:

  • Early detection of cobalamin deficiency is crucial due to its association with neurodegenerative diseases.
  • Holotranscobalamin (holoTC) and MMA are superior markers for diagnosing cobalamin deficiency compared to total cobalamin.
  • Prompt diagnosis and effective treatment are essential to prevent irreversible neurological damage associated with vitamin B12 deficiency.