5C57.0
Disorders of peroxisome biogenesis
Distúrbio da biogênese de peroxissoma
CategoryDefinition
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.
Index Terms
Disorders of peroxisome biogenesisZellweger spectrum disorderHyperpipecolic acidaemiaZellweger syndromeCerebrohepatorenal syndromeZellweger spectrum disorder, severe formZellweger spectrum disorder, mild formZellweger spectrum disorder, unclassified clinical severityPEX1 deficiencyPEX2 deficiencyPEX3 deficiencyPEX5 deficiencyPEX6 deficiencyPEX10 deficiencyPEX12 deficiencyPEX13 deficiencyPEX14 deficiencyPEX16 deficiencyPEX19 deficiencyPEX26 deficiency