Inherited or Inborn Metabolic Disorders

Inherited Metabolic Errors are a diverse group of disorders that are genetically transmitted, typically in an autosomal recessive fashion, may occur as the result of spontaneous mutations. These diseases ultimately results to defects in the biochemical pathways involved in either the break-down or storage of carbohydrates, fatty acids, and proteins. 

  • Carbohydrate metabolism disorder
  • Organic acid disorders
  • Urea cycle defects
  • Amino acid disorders

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