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Vitamin B12 and / or folate deficiency

Vitamin B12 Deficiency

Biochemistry:

  • Vitamin B12, also known as cobalamin, is essential for DNA synthesis, red blood cell formation, and neurological function.
  • Sources: Primarily found in animal products – meat, dairy, eggs.

Etiology:

  • Dietary deficiency (common in vegans).
  • Malabsorption syndromes (e.g., pernicious anemia, Crohn’s disease, gastric bypass surgery).
  • Increased need (e.g., pregnancy).
  • Medications (e.g., metformin, proton pump inhibitors).

Clinical Features:

  • Anemia: Fatigue, pallor, weakness.
  • Neurological: Peripheral neuropathy, balance difficulties, cognitive disturbances (e.g., memory loss).
  • Glossitis and mouth ulcers.

Diagnosis:

  • Complete blood count (CBC): Macrocytic anemia.
  • Serum vitamin B12 levels.
  • Elevated serum homocysteine and methylmalonic acid levels.
  • Intrinsic factor antibodies for pernicious anemia.

Management:

  • Vitamin B12 supplementation, either orally or via intramuscular injections.
  • Addressing underlying causes.
  • Monitoring response to therapy.

Folate Deficiency

Biochemistry:

  • Folate (Vitamin B9) is vital for nucleotide synthesis and cell division.
  • Sources: Leafy greens, fruits, legumes, fortified foods.

Etiology:

  • Dietary deficiency.
  • Malabsorption (e.g., celiac disease).
  • Increased requirement (e.g., pregnancy, chronic hemolysis).
  • Medications (e.g., methotrexate, sulfasalazine).

Clinical Features:

  • Anemia: Fatigue, pallor, dyspnea.
  • Gastrointestinal symptoms: Diarrhea, loss of appetite, weight loss.
  • No neurological symptoms, differentiating it from B12 deficiency.

Diagnosis:

  • CBC: Macrocytic anemia.
  • Serum folate levels.
  • Elevated homocysteine levels (normal methylmalonic acid levels).

Management:

  • Dietary folate supplementation.
  • Treating underlying causes.
  • Folate supplementation in pregnancy to prevent neural tube defects.

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