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BI9.1-3 | Minerals, electrolytes, Water and Acid base balance — SDL Guide (Part 2)

Other Trace Minerals — Copper, Zinc, Iodine

Copper:
- Cofactor for: lysyl oxidase (collagen cross-linking), caeruloplasmin (ferroxidase), superoxide dismutase, cytochrome oxidase, dopamine-β-hydroxylase, tyrosinase (melanin synthesis)
- Menkes disease: X-linked copper deficiency → defective lysyl oxidase → brittle, kinky hair, connective tissue defects, intellectual disability, tortuous arteries. Low serum copper + caeruloplasmin.
- Wilson's disease: autosomal recessive copper accumulation (defective ATP7B transporter → copper cannot be incorporated into caeruloplasmin or excreted in bile) → deposits in liver, brain, eye. Kayser-Fleischer rings (copper in cornea), hepatic cirrhosis, psychiatric symptoms. Low serum caeruloplasmin, high urine copper.

Zinc:
- Cofactor for >300 enzymes: carbonic anhydrase, carboxypeptidase, alcohol dehydrogenase, DNA polymerase, RNA polymerase
- Deficiency: Acrodermatitis enteropathica (genetic malabsorption), growth retardation, poor wound healing, hypogonadism, ageusia (loss of taste), anosmia, impaired immune function, alopecia
- Common in India: zinc deficiency in malnourished children impairs immunity and increases mortality from diarrhoea and pneumonia

Iodine:
- Essential for thyroid hormone synthesis
- Deficiency → hypothyroidism and goitre (see Organ Function Tests module for TFT details)
- India's National Iodisation Programme: iodised salt mandated since 1983; still suboptimal in some regions

Other Trace Minerals — Copper, Zinc, Iodine

Figure: Other Trace Minerals — Copper, Zinc, Iodine

Multi-panel illustration of trace minerals: copper metabolism with Wilson and Menkes diseases, zinc functions and deficiency features, iodine in thyroid hormone synthesis with goitre/cretinism, and fluoride in dental/skeletal health
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SELF-CHECK — : Minerals

A 28-year-old woman is found to have haemoglobin 8.2 g/dL, MCV 65 fL (low), serum ferritin 4 µg/L (low), TIBC elevated. Which stage of iron deficiency does this represent?

A. Stage 1 — iron depletion only

B. Stage 2 — iron-deficient erythropoiesis without anaemia

C. Stage 3 — iron deficiency anaemia with microcytosis

D. Anaemia of chronic disease

Reveal Answer

Answer: C. Stage 3 — iron deficiency anaemia with microcytosis


A 12-year-old boy has stunted growth, delayed puberty, rough skin, and poor wound healing. His diet is largely cereals and vegetables with minimal animal protein. Serum zinc is low. What enzyme cofactor is most critically affected by zinc deficiency?

A. Lysyl oxidase

B. Prolyl hydroxylase

C. Carbonic anhydrase and DNA/RNA polymerases

D. Pyruvate dehydrogenase

Reveal Answer

Answer: C. Carbonic anhydrase and DNA/RNA polymerases

Body Water and Electrolytes

Total body water (TBW): ~60% of body weight in adult males; ~55% in females (more fat = less water).
- Intracellular fluid (ICF): ~2/3 of TBW (40% body weight) — K⁺ is the major cation
- Extracellular fluid (ECF): ~1/3 of TBW (20% body weight)
- Interstitial fluid (15%)
- Plasma (5%)

Electrolyte distribution:

ElectrolyteMajor CompartmentNormal PlasmaFunction
Na⁺ECF (main cation)135–145 mEq/LOsmolality, action potentials
K⁺ICF (main cation)3.5–5.0 mEq/LResting membrane potential
Cl⁻ECF (main anion)95–105 mEq/LAccompanies Na⁺
HCO₃⁻ECF (second anion)22–28 mEq/LPrimary blood buffer
Ca²⁺ECF (ionised)4.5–5.3 mg/dLMuscle contraction, coagulation
Mg²⁺ICF1.5–2.5 mEq/LATP synthesis, cardiac rhythm

Hyponatraemia (<135 mEq/L): Most common electrolyte disturbance in hospital. Causes: SIADH (excess ADH → water retention → dilution), heart failure, liver cirrhosis, diarrhoea. Symptoms: nausea, headache, confusion, seizures (if acute/severe).

Hyperkalaemia (>5.5 mEq/L): Most dangerous electrolyte disturbance — can cause fatal cardiac arrhythmias. Causes: renal failure (K⁺ cannot be excreted), acidosis (H⁺ enters cells, K⁺ exits to maintain electroneutrality), ACE inhibitors. ECG: peaked T waves → wide QRS → sine wave → cardiac arrest.

Body Water and Electrolytes

Figure: Body Water and Electrolytes

Multi-panel illustration of body water and electrolytes: TBW compartments (ICF, interstitial, plasma), ICF vs ECF electrolyte composition with Na/K ATPase, sodium imbalance (hypo/hypernatraemia), and potassium imbalance with ECG changes
Electrolyte distribution:

Figure: Electrolyte distribution:

Multi-panel illustration of electrolyte imbalances: ICF vs ECF concentration comparison, hypokalaemia with ECG changes and causes, hyperkalaemia ECG progression with emergency treatment, and calcium imbalances with clinical signs
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Acid-Base Balance — Buffers and Physiology

Normal arterial blood pH: 7.35–7.45 (mildly alkaline)

Maintaining this narrow range is critical — enzyme activity, protein conformation, and oxygen delivery all depend on pH.

Three buffer systems:
1. Bicarbonate buffer (most important in ECF): H⁺ + HCO₃⁻ ⇌ H₂CO₃ ⇌ H₂O + CO₂
- CO₂ expelled by lungs (respiratory compensation)
- HCO₃⁻ regulated by kidneys (metabolic compensation)
- Henderson-Hasselbalch: pH = 6.1 + log ([HCO₃⁻] / 0.03 × pCO₂)

  1. Phosphate buffer (most important in ICF and urine): H₂PO₄⁻ / HPO₄²⁻ (pKa 6.8)
  1. Protein buffer (including haemoglobin): imidazole groups of histidine residues buffer H⁺ in red cells; deoxyhaemoglobin is a better buffer than oxyhaemoglobin (Haldane effect)

Physiological compensations:
- Respiratory: lungs adjust CO₂ within minutes (hyperventilation to blow off CO₂ in metabolic acidosis; hypoventilation to retain CO₂ in metabolic alkalosis)
- Renal: kidneys adjust HCO₃⁻ over hours to days (excrete acid + regenerate HCO₃⁻ in metabolic acidosis; excrete HCO₃⁻ in metabolic alkalosis)

Acid-Base Balance — Buffers and Physiology

Figure: Acid-Base Balance — Buffers and Physiology

Multi-panel illustration of acid-base balance: pH scale with consequences of deviation, three buffer systems (bicarbonate, phosphate, protein), Henderson-Hasselbalch equation with worked calculation, and respiratory vs renal compensation mechanisms
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