Related Experiment Video

Updated: Jun 12, 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

Cobalamin status in children

Anne-Lise Bjørke-Monsen1, Per Magne Ueland

  • 1Laboratory of Clinical Biochemistry, Haukeland University Hospital, Bergen, Norway. almo@helse-bergen.no

Journal of Inherited Metabolic Disease
|May 29, 2010
PubMed

Insights

Cobalamin deficiency is common in breastfed infants and children, potentially causing developmental delays and severe health issues. Early diagnosis and prevention strategies are crucial for addressing this widespread concern.

Area of Science:

  • Pediatric Nutrition
  • Metabolic Disorders
  • Developmental Pediatrics

Background:

  • Cobalamin (vitamin B12) and its metabolic markers, methylmalonic acid and total homocysteine, exhibit significant changes during childhood.
  • Breastfed infants frequently present metabolic profiles suggesting cobalamin deficiency.
  • Symptoms of cobalamin deficiency in children vary with age, ranging from subtle developmental delays to critical conditions.

Purpose of the Study:

  • To highlight the prevalence and diagnostic challenges of cobalamin deficiency in children.
  • To emphasize the potential long-term neurological consequences of untreated or delayed-treated deficiency.
  • To advocate for increased attention to cobalamin deficiency prevention in mothers and infants.

Main Methods:

  • Review of existing literature on cobalamin metabolism and deficiency in pediatric populations.
  • Analysis of age-specific clinical presentations and diagnostic delays.
  • Discussion of the impact of cobalamin deficiency on growth and development.

Main Results:

  • Cobalamin deficiency is a common finding in breastfed infants.
  • Diagnostic delays are frequent, particularly in infants, often lasting several months.
  • Even moderate deficiency can lead to harmful effects, including persistent neurological deterioration.
  • Symptoms can be subtle and easily missed, especially in younger children.

Conclusions:

  • Cobalamin deficiency is a significant concern in pediatric populations, requiring clinical attention.
  • It should be considered in the differential diagnosis of children presenting with subtle symptoms.
  • Preventive strategies targeting mothers and children are essential to mitigate deficiency risks.

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...
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...
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
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...
Sulfur Assimilation01:20

Sulfur Assimilation

Sulfur is an essential element in biological systems, contributing to synthesizing key biomolecules, including amino acids such as cysteine and methionine, and cofactors such as coenzyme A and biotin. Microorganisms primarily assimilate sulfur as sulfate (SO₄²⁻) from the environment, which must undergo a series of biochemical transformations before it can be incorporated into cellular components. As sulfate is highly oxidized, it must undergo assimilatory sulfate reduction to become...