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Inborn errors of metabolism

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Health depends on the well regulated flux of biochemicals through metabolic pathways. When steps in a pathways become dysregulated disease occurs because of:

  • deficiency of essential biochemicals, for example the hypoglycaemia of some glycogen storage diseases
  • toxic accumulation of biochemicals, for example phenylalanine in phenylketonuria

In 1902 Archibold Garrod introduced the concept of inborn errors of metabolism to describe inherited defects, often in enzymes, which interupt metabolic pathways.

Metabolic disease may be caused by defects in:

  • small molecule metabolism

  • subcellular organelles:
    • lysosomal disease
    • peroxisomal disease
    • mitochondrial disease

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