Deficiency syndromes of water-soluble vitamins

Deficiency syndromes of water-soluble vitamins

Deficiency syndromes of water-soluble vitamins

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Thiamine (B1) & Riboflavin (B2) - The Energy Duo

  • Thiamine (B1): Cofactor for dehydrogenase enzymes (Pyruvate DH, α-ketoglutarate DH, Transketolase).
    • Deficiency: Impaired glucose breakdown → ATP depletion.
    • Wernicke-Korsakoff Syndrome: Classic triad of Confusion, Ophthalmoplegia, Ataxia (📌 COA). Common in alcoholism. Progresses to irreversible memory loss & confabulation (Korsakoff psychosis).
    • Beriberi:
      • Dry: Symmetrical peripheral neuropathy.
      • Wet: High-output, dilated cardiomyopathy; edema.

⭐ Giving glucose to a B1-deficient patient without thiamine can precipitate acute Wernicke encephalopathy.

  • Riboflavin (B2): Component of FAD & FMN for redox reactions.
    • Deficiency: Cheilosis (fissures at mouth corners), Corneal vascularization, Magenta-colored tongue (📌 The 2 C's of B2).

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Niacin (B3) & Pyridoxine (B6) - Pellagra Players

  • Niacin (B3) Deficiency (Pellagra)

    • 📌 3 D's: Dermatitis (photosensitive, Casal necklace), Diarrhea, Dementia. Fourth D is Death.
    • Causes: Hartnup disease, carcinoid syndrome, isoniazid.
    • Synthesized from Tryptophan; requires B2 and B6.
  • Pyridoxine (B6) Deficiency

    • Causes: Isoniazid, oral contraceptives.
    • Symptoms: Sideroblastic anemia (impaired heme synthesis), peripheral neuropathy, cheilosis, glossitis, convulsions.

Isoniazid can cause a functional deficiency of both B3 and B6. It inhibits pyridoxal kinase (activating B6) and can lead to pellagra-like symptoms by depleting the B6 needed for niacin synthesis.

Pellagra: Casal necklace dermatitis

Folate (B9) & Cobalamin (B12) - Megaloblastic Madness

  • Shared Pathology: Impaired DNA synthesis leads to megaloblastic anemia (MCV > 100 fL), pancytopenia, hypersegmented neutrophils (>5 lobes), and glossitis.
  • Lab Markers: Both deficiencies cause ↑ homocysteine. Only B12 deficiency causes ↑ methylmalonic acid (MMA), as B12 is a cofactor for methylmalonyl-CoA mutase. image

⭐ Folate supplementation can mask the hematologic signs of B12 deficiency, permitting irreversible neurological damage (subacute combined degeneration) to progress.

📌 Folate from foliage; B12 from animal biproducts.

Vitamin C & Friends - Scurvy Crew

Scurvy: perifollicular hemorrhage and corkscrew hairs

  • Function: Ascorbic acid is a key antioxidant and essential cofactor for:

    • Collagen Synthesis: Prolyl & lysyl hydroxylases. Deficiency → fragile vessels & poor wound healing.
    • Dopamine Synthesis: Dopamine β-hydroxylase (converts dopamine to NE).
    • Iron Absorption: Reduces dietary ferric ($Fe^{3+}$) to absorbable ferrous ($Fe^{2+}$) iron in the gut.
  • Deficiency (Scurvy): Presents after months of deprivation.

    • Mucocutaneous: Swollen, bleeding gums; perifollicular hemorrhage; petechiae; coiled "corkscrew" hairs.
    • MSK: Hemarthrosis, subperiosteal hemorrhage.
    • Systemic: Anemia, malaise, impaired wound healing.

High-Yield: Vitamin C deficiency can cause microcytic anemia due to its role in iron absorption and macrocytic anemia if folate intake is also poor.

High‑Yield Points - ⚡ Biggest Takeaways

  • Thiamine (B1) deficiency causes Wernicke-Korsakoff syndrome (confusion, ataxia, ophthalmoplegia) and beriberi.
  • Niacin (B3) deficiency leads to pellagra: the 3 Ds of dermatitis, diarrhea, and dementia.
  • Folate (B9) deficiency results in megaloblastic anemia and neural tube defects without neurologic symptoms.
  • Cobalamin (B12) deficiency causes megaloblastic anemia with irreversible neurological deficits.
  • Vitamin C deficiency (scurvy) presents with impaired wound healing, bleeding gums, and perifollicular hemorrhage.
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Practice Questions: Deficiency syndromes of water-soluble vitamins

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A 34-year-old female with a past medical history of a gastric sleeve operation for morbid obesity presents for pre-surgical clearance prior to a knee arthroplasty. Work-up reveals a hemoglobin of 8.7 g/dL, hematocrit of 26.1%, and MCV of 106 fL. With concern for folate deficiency, she is started on high dose folate supplementation, and her follow-up labs are as follows: hemoglobin of 10.1 g/dL, hematocrit of 28.5%, and MCV of 96 fL. Given her history of gastric sleeve surgery and associated malabsorption risks, she is at long-term risk for which complication?

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Flashcards: Deficiency syndromes of water-soluble vitamins

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Pellagra (B3 deficiency) is associated with _____-pigmentation of sun-exposed limbs

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Pellagra (B3 deficiency) is associated with _____-pigmentation of sun-exposed limbs

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