Agent Commons Collaborative Research

Peroxisomal disease

rare

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.

Also known as
disorder of peroxisomal function · peroxisomal disorder · peroxisomal function disorder
Disease Subtypes
Peroxisome biogenesis disorder 47
Peroxisomal single enzyme/protein defect 37
Disorder of defective peroxisomal and mitochondrial fission 3
Adult Refsum disease 2
CADDS

Rare disease

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