Mineral deficiency disorders

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Iron Deficiency - The Rusty Engine

  • Etiology: Chronic blood loss (GI bleed, menses), malnutrition/absorption issues, or increased demand (pregnancy).
  • Clinical: Fatigue, pallor, glossitis, cheilosis. Pica (craving non-food items), koilonychia (spoon nails).
  • Labs: ↓ Ferritin (first indicator), ↓ serum Fe, ↑ TIBC, ↓ transferrin saturation (<15%). Anemia is microcytic, hypochromic (↓ MCV, ↓ MCH).

Plummer-Vinson Syndrome: A classic triad of dysphagia (due to esophageal webs), glossitis, and iron deficiency anemia. 📌 Mnemonic: WEBS (Webs, Esophageal, Beefy-red tongue, Swallowing difficulty).

Iodine & Selenium - Thyroid's Tandem

  • Iodine: Integral component of thyroid hormones (thyroxine/T4 & triiodothyronine/T3).

    • Deficiency: ↓ T3/T4 → ↑ TSH → goiter.
    • Severe deficiency: Cretinism (infants), myxedema (adults).
    • Sources: Iodized salt, seafood, dairy.
  • Selenium: Essential cofactor for 5'-deiodinase, the enzyme that converts T4 → T3 (active form).

    • Also a key part of antioxidant glutathione peroxidase.
    • Deficiency: Impairs T3 production, can exacerbate iodine deficiency.
    • Associated with Keshan disease (cardiomyopathy).

Thyroid hormone synthesis: iodine, selenium, and iron roles

High-Yield: Selenium deficiency can worsen the effects of concurrent iodine deficiency, leading to more severe hypothyroidism and goiter, as T4 to T3 conversion is impaired.

Copper & Zinc - The Co-factor Crew

  • Copper (Cu): Cofactor for lysyl oxidase (collagen cross-linking), cytochrome c oxidase (electron transport), & dopamine β-hydroxylase.

    • Deficiency: Microcytic anemia, neutropenia, ataxia (myelopathy mimicking B12 def.), brittle/depigmented hair.
    • Menkes Disease: X-linked recessive (ATP7A gene) → ↓Cu absorption → “kinky hair,” hypotonia, growth failure.
  • Zinc (Zn): Cofactor for >100 enzymes (e.g., carbonic anhydrase) & zinc-finger transcription factors.

    • Deficiency: Impaired wound healing, hypogonadism, dysgeusia, anosmia, alopecia.

Acrodermatitis enteropathica, an inherited Zn malabsorption, presents with a classic triad: periorificial/acral dermatitis, alopecia, & diarrhea.

Acrodermatitis enteropathica rash on infant

Other Key Players - The Supporting Cast

  • Zinc: Deficiency → Acrodermatitis enteropathica (perioral/acral rash), alopecia, dysgeusia, anosmia, poor wound healing, hypogonadism.
  • Copper: Component of lysyl oxidase & cytochrome c oxidase. Deficiency → brittle/kinky hair, microcytic anemia, osteoporosis, neutropenia.
  • Selenium: Component of glutathione peroxidase. Deficiency → Keshan disease (cardiomyopathy), myopathy.
  • Chromium: Potentiates insulin. Deficiency → impaired glucose tolerance, peripheral neuropathy.

Menkes disease (X-linked recessive ATP7A defect) causes copper deficiency. Classic findings: brittle, “kinky” hair, growth retardation, and hypotonia.

High‑Yield Points - ⚡ Biggest Takeaways

  • Iron deficiency, the most common nutritional disorder, causes microcytic anemia, koilonychia, and pica.
  • Iodine deficiency leads to goiter and hypothyroidism; congenital deficiency causes cretinism.
  • Copper deficiency (e.g., Menkes disease) presents with brittle, kinky hair, and microcytic anemia.
  • Zinc deficiency is marked by acrodermatitis enteropathica, poor wound healing, and anosmia.
  • Selenium deficiency is strongly associated with Keshan disease, a severe cardiomyopathy.
  • Chromium deficiency can result in impaired glucose tolerance.

Practice Questions: Mineral deficiency disorders

Test your understanding with these related questions

A 37-year-old man is brought to the emergency department because he was found down on a city sidewalk. Upon presentation he is found to be disheveled with multiple poorly healed wounds on his hands and feet. He has had dozens of previous presentations for alcohol intoxication and is currently known to be homeless. Physical examination reveals multiple minor wounds, alopecia, and decreased axillary hair. Upon being aroused, the patient reveals that he has had difficulty with taste and smell and has also had severe diarrhea over the last week. The deficient substance most likely responsible for this patient's symptoms is associated with which of the following proteins?

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Flashcards: Mineral deficiency disorders

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Pyruvate dehydrogenase deficiency is characterized by _____ serum alanine starting at infancy

TAP TO REVEAL ANSWER

Pyruvate dehydrogenase deficiency is characterized by _____ serum alanine starting at infancy

increased

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