Peroxisomal disease
| Peroxisomal disorder | |
|---|---|
 |
|
| Basic structure of a peroxisome | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E80.3 |
| ICD-9-CM | 277.86 |
| eMedicine | neuro/309 |
| MeSH | D018901 |
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 (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.
Peroxisomal disorders also include:
The mission of the ELA is to help and support families affected by leukodystrophy, to stimulate the development of research thanks to the ELA Foundation created in 2005, to raise public awareness, to develop its work at international level. ELA is thus a bridge between all forms of leukodystrophy and a family solidarity network.
The mission of The Global Foundation for Peroxisomal Disorders is to help children and families faced with a diagnosis of a Peroxisomal Biogenesis Disorder (in the Zellweger Spectrum of Disorders) and to assist family members and professionals through educational programs, research, and support services.
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