Storage disorders comprise a bewildering collection of inherited metabolic conditions which share the accumulation of a metabolite within various cells in the body due to dysfunction of specific enzymes or transport proteins. Accumulation of metabolites eventually results in cellular and/or organ dysfunction.
Pathology
The majority of storage disorders are inherited as autosomal recessive disease 1.
Classification
Storage disorders can be broadly divided according to the type metabolic defect 1:
- carbohydrate metabolism disorders
- carbohydrate intolerance
- glycogen storage disorders
- fatty acid oxidation defects
- lysosomal storage disorders
- mitochondrial disorders
- peroxisomal disorders
- protein metabolism disorders
- aminoacidopathies
- organic acidemias
- urea cycle enzyme defects
- purine and pyrimidine metabolism disorders
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