Inborn error of Metabolism

Inborn errors of metabolism are single gene disorders that results from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively it accounts for childhood disability and deaths. All inborn errors of metabolism are genetically transmitted, typically in an autosomal recessive fashion. Children with inherited metabolic disorders which mostly appear normal at birth because metabolic intermediates responsible for the disorder are usually small molecules that can be transported by the placenta and then eliminated by the mother’s metabolism.

  • Prevention can be done by shot gun and laser treatment
  • Elevated plasma ammonia level
  • Metabolic acidosis
  • X-linked recessive

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