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Hereditary vitamin B12 deficiency anemia

Last edited: 4/16/2026

Overview

Hereditary vitamin B12 deficiency anemia, often stemming from intrinsic factor deficiency or other genetic defects affecting vitamin B12 absorption, leads to megaloblastic anemia, growth retardation, and potential neurological complications if untreated 1.

Diagnosis

  • Clinical Presentation: Anemia, failure to thrive, developmental delays, especially prevalent in infants and young children 1.
  • Laboratory Tests: Low serum vitamin B12 levels (typically <200 pg/mL), elevated methylmalonic acid (MMA), and homocysteine levels 1.
  • Age Consideration: Commonly diagnosed in children aged 0-2 years, with mean age at admission around 10 months 1.

    • Management

  • First-Line Treatment: Parenteral vitamin B12 supplementation (dose specifics not detailed in the abstract) 1.
  • Duration: Regular follow-up and sustained treatment to prevent relapse and irreversible neurological damage 1.
  • Monitoring: Periodic assessment of vitamin B12 levels, hemoglobin, and MMA/homocysteine concentrations to guide treatment efficacy 1.

    • Special Populations

  • Pediatrics: High prevalence in infants and young children; early diagnosis and treatment crucial to prevent neurological sequelae 1.

    • Key Recommendations

  • Screen and Treat Early in High-Risk Infants: Regular screening for vitamin B12 deficiency in infants, particularly those at genetic risk, to prevent irreversible neurological damage (Evidence: Moderate 1).
  • Initiate Parenteral Vitamin B12 Supplementation: For confirmed deficiency, start with parenteral vitamin B12 due to its efficacy in correcting deficiency states (Evidence: Expert opinion 1).
  • Maintain Regular Follow-Up: Ensure ongoing monitoring and supplementation to maintain adequate vitamin B12 levels and prevent relapse (Evidence: Moderate 1).

    • References

    1 Kılcı C, Olcay L. A common problem in infants: vitamin B. The Turkish journal of pediatrics 2023. link

    Original source

    1. [1]
      A common problem in infants: vitamin B — Kılcı C, Olcay L The Turkish journal of pediatrics (2023)
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