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.

Peroxisome biogenesis disorders

Peroxisome biogenesis disorders include the Zellweger syndrome spectrum and rhizomelic chondrodysplasia punctata type 1. 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.
NameOMIMGeneICD-10
Zellweger syndromePEX1, PEX2, PEX3, PEX5, PEX6, PEX12, PEX14, PEX26Q87.82
Infantile Refsum diseasePEX1, PEX2, PEX26E80.3
Neonatal adrenoleukodystrophyPEX5, PEX1, PEX10, PEX13, PEX26E71.331
RCDP Type 1PEX7Q77.3
Heimler syndromePEX1, PEX6

Enzyme and transporter defects

Peroxisomal disorders also include:
NameOMIMGeneICD-10 NA
Pipecolic acidemiaPHYHE80.301
AcatalasiaCATE80.310
Hyperoxaluria type 1AGXTE80.311
Acyl-CoA oxidase deficiencyACOX1E80.313
D-bifunctional protein deficiencyHSD17B4E80.314
Dihydroxyacetonephosphate acyltransferase deficiencyGNPATE80.315
X-linked adrenoleukodystrophyABCD1E71.33
α-Methylacyl-CoA racemase deficiencyAMACR
RCDP Type 2DHAPATQ77.3
RCDP Type 3AGPSQ77.3
Adult Refsum disease-1PHYHG60.1
Mulibrey nanismTRIM37