peroxisomal disorder peroxisomal disorder peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. this may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by pex genes that are critical for normal peroxisome assembly and biogenesis. peroxisomal disorderbasic structure of a peroxisomespecialtymedical genetics peroxisome biogenesis disorders 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. pbd-zsd is most commonly caused by mutations in the pex1, pex6, pex10, pex12, and pex26 genes. this results in the over-accumulation of very long chain fatty acids and branched chain fatty acids, such as phytanic acid. in addition, pbd-zsd patients show deficient levels of plasmalogens, ether-phospholipids necessary for normal brain and lung function. rcdp1 is caused by mutations in the pex7 gene, which encodes the pts2 receptor. rcdp1 patients can develop large tissue stores of branched chain fatty acids, such as phytanic acid, and show reduced levels of plasmalogens. name omim gene icd-10 zellweger syndrome 214100 pex1, pex2, pex3, pex5, pex6, pex12, pex14, pex26 q87.82 infantile refsum disease 266510 pex1, pex2, pex26 e80.3 neonatal adrenoleukodystrophy 202370 pex5, pex1, pex10, pex13, pex26 e71.331 rcdp type 1 215100 pex7 q77.3 heimler syndrome 234580 pex1, pex6 enzyme and transporter defects peroxisomal disorders also include: name omim gene icd-10 na pipecolic acidemia 600964 phyh e80.301 acatalasia 115500 cat e80.310 hyperoxaluria type 1 259900 agxt e80.311 acyl-coa oxidase deficiency 264470 acox1 e80.313 d-bifunctional protein deficiency 261515 hsd17b4 e80.314 dihydroxyacetonephosphate acyltransferase deficiency 222765 gnpat e80.315 x-linked adrenoleukodystrophy 300100 abcd1 e71.33 α-methylacyl-coa racemase deficiency 604489 amacr rcdp type 2 222765 dhapat q77.3 rcdp type 3 600121 agps q77.3 adult refsum disease-1 266500 phyh g60.1 mulibrey nanism 253250 trim37