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Up to: Inborn errors of metabolism
Peroxisomal disease
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.
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Peroxisomal single enzyme/protein defect 0 trials · 35 incl. sub-types Sub-types →
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Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
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CADDS 0 trials