Inborn Errors of Metabolism

Seizures are the major presenting feature of an inborn error of metabolism. The major symptom includes reduced level of consciousness in a child with an organic acidaemia or urea cycle defect. Intake of more fructose foods leads to damage of liver and kidney. Hereditary fructose intolerance results in seizures, coma, and death from kidney and liver failure. Excess isovaleric acid in blood results in isovaleric acidemia which affects the brain and nervous system.

  • Track 1-1 Isovaleric Acidemia
  • Track 2-2 Urea Cycle Defects
  • Track 3-3 Hereditary fructose intolerance
  • Track 4-4 Biotin deficiencies

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