Acute porphyria

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inborn errors of metabolism caused by mutations in genes that code for enzymes of the heme biosynthetic pathway; acute intermittent porphyria is an autosomal dominant inherited disorder that can exist in latent form indefinitely or can cause acute attacks producing neurologic dysfunction

  1. Enzyme defect is porphobilinogen deaminase (PBGD)
  2. Attacks may be triggered by metabolic, environmental, hormonal factors, but also by medication(e.g. morphine, penicillin, steroids, digoxin – in general drugs that induce high liver metabolsim), starvation, infections
  3. Symptoms
    1. abdominal: acute abdominal pain, constipation, urinary retention
    2. neurologic: polyradiculopathy with tetraplegia and respiratory insufficiency (GBS-like), hallucinations, coma, seizures
    3. cardiovascular: hypertension, tachycardia
    4. systemic: fever, hyponatremia, renal insufficiency
  4. During attack see increased urinary excretion of porphobilinogen causing dark urine
  5. Management: dextrose infusion, high carbohydrate intake, hematin infusion
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