Inborn Errors of Metabolism

Basics

Defect in the type, amount, and toxicity of metabolites that accumulate due to inherited defects in metabolic pathways of enzymes, cofactors, or transporters that result in a variety of clinical findings; >500 human diseases are caused by inborn errors of metabolism
Epidemiology:
- Incidence:
  - > 1:1,000 births
Genetics:
- Common inherited metabolic diseases:
  - Amino acid disorders
  - Urea cycle defects
  - Organic acidemias
  - Defects in fatty acid oxidation
  - Mitochondrial fatty acid defects and carnitine transport defects
  - Mitochondrial disease
  - Carbohydrate disorders
  - Mucopolysaccharidoses
  - Sphingolipidoses
  - Peroxisomal disorders
  - Protein glycosylation disorders
  - Lysosomal disorders
  - Rhizomelic chondrodysplasia punctata
Pathophysiology:
- Related to defect in a metabolic pathway

Diverse group of disorders involving genetic deficiency of an enzyme of an intermediary metabolite or a membrane transport system

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