Storage disorders

Last revised by Daniel J Bell on 5 Mar 2021

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. 


The majority of storage disorders are inherited as autosomal recessive disease 1


Storage disorders can be broadly divided according to the type metabolic defect 1:

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