IEM

Inborn Errors of Metabolism

Genetic metabolic conditions can occur due to disruptions in normal processing of metabolites in our body. They can affect various metabolic pathways. They are often diagnosed through biochemical testing, genetic testing, and clinical evaluation. Types of IEM:

  • Amnio acid disorders: phenylketonuria (PKU), maple syrup urine disease, homocystinuria, etc
  • Organic acid disorders: propionic acidemia, methylmalonic acidemiaetc
  • Fatty acid oxidation disorders: medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiencyetc
  • Lysosomal storage disorders: Gaucher disease, Tay-Sachs disease, Niemann-Pick disease etc.
  • Glycogen storage disorders
  • Mitochondrial disorders: Leigh’s disease, mitochondrial encephalopathies etc
  • Others: urea cycle disorders, cofactor and vitamin disorders and so on.
Inborn errors of metabolism (IEM)

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