Disorders of peroxisome biogenesis Save
ICD-10 code: E71.51
Chapter: Endocrine, nutritional and metabolic diseases
Understanding Disorders of Peroxisome Biogenesis
Peroxisomes are organelles present in the cells of all eukaryotic organisms. They are involved in several metabolic pathways, including fatty acid oxidation, detoxification of harmful compounds, and biosynthesis of plasmalogens and bile acids. Peroxisome biogenesis disorders (PBDs) are a group of rare genetic disorders that affect the formation of peroxisomes, leading to a wide range of clinical symptoms.
Types of PBDs
There are currently 14 known types of PBDs, each caused by mutations in different genes involved in peroxisome biogenesis. The most common type is Zellweger syndrome, which is characterized by severe neurodevelopmental abnormalities, liver dysfunction, and vision and hearing impairments. Other types include neonatal adrenoleukodystrophy, rhizomelic chondrodysplasia punctata, and infantile Refsum disease.
Symptoms of PBDs
The symptoms of PBDs can vary widely, depending on the type and severity of the disorder. Common symptoms include developmental delays, seizures, liver dysfunction, bone abnormalities, hearing and vision impairments, and skin abnormalities. Some types of PBDs can also lead to an increased risk of certain types of cancer.
Diagnosis and Treatment
Diagnosis of PBDs typically involves a combination of clinical evaluation, genetic testing, and imaging studies. There is currently no cure for PBDs, and treatment is focused on managing the symptoms and complications of the disorder. This may include medications to control seizures, physical therapy to improve mobility and coordination, and surgery to correct bone abnormalities or other physical deformities.
Conclusion
Peroxisome biogenesis disorders are a group of rare genetic disorders that can have a significant impact on the health and well-being of affected individuals. While there is currently no cure for these disorders, advances in genetic testing and imaging studies have improved our ability to diagnose and manage these conditions. With ongoing research and development, there is hope that new treatments will be developed to improve the outcomes for individuals with PBDs.
- References:
- Braverman, N. E., & Raymond, G. V. (2012). Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Molecular genetics and metabolism, 105(4), 496-504.
- Waterham, H. R., & Ebberink, M. S. (2012). Genetics and molecular basis of human peroxisome biogenesis disorders. Biochimica et Biophys
Diagnosis Codes for Disorders of peroxisome biogenesis | E71.51