Peroxisomal disorders
Peroxisomal Disorders
Peroxisomal disorders are a group of rare, genetic diseases that primarily affect children, causing a range of medical problems. These disorders are characterized by the dysfunction of peroxisomes, small, membrane-bound organelles within cells that play a crucial role in numerous metabolic processes.
Pronunciation
Peroxisomal disorders: /pɛrˌɒksɪˈsoʊməl dɪsˈɔːrdərz/
Etymology
The term "peroxisomal disorders" is derived from the word "peroxisome", which comes from the Greek words "peroxi", meaning "around" and "soma", meaning "body". The term "disorder" comes from the Latin "dis-", meaning "apart" and "ordo", meaning "order".
Related Terms
- Zellweger syndrome: A severe type of peroxisomal disorder.
- Adrenoleukodystrophy: A peroxisomal disorder that affects the adrenal glands, spinal cord, and nervous system.
- Peroxisome: A cellular organelle involved in many important metabolic processes.
- Metabolic disorder: A broad category of medical conditions that includes peroxisomal disorders.
Overview
Peroxisomal disorders are caused by mutations in genes that affect the function of peroxisomes. These organelles are involved in a variety of metabolic processes, including the breakdown of very long chain fatty acids (VLCFAs), the biosynthesis of bile acids, and the detoxification of hydrogen peroxide. When peroxisomes are not functioning properly, these processes are disrupted, leading to a range of symptoms and health problems.
There are two main types of peroxisomal disorders: peroxisome biogenesis disorders (PBDs), which are caused by defects in the formation of peroxisomes, and single enzyme deficiencies (SEDs), which are caused by defects in individual peroxisomal enzymes.
Symptoms
The symptoms of peroxisomal disorders can vary widely, depending on the specific disorder and its severity. Common symptoms can include developmental delay, vision and hearing problems, liver dysfunction, and neurological abnormalities.
Diagnosis
Diagnosis of peroxisomal disorders typically involves a combination of clinical examination, laboratory testing, and genetic testing. Laboratory tests can detect abnormalities in the levels of certain substances in the blood or urine that are indicative of peroxisomal dysfunction.
Treatment
There is currently no cure for peroxisomal disorders. Treatment is primarily supportive and aims to manage symptoms and improve quality of life. This can include dietary modifications, physical therapy, and medications to manage specific symptoms.
External links
- Medical encyclopedia article on Peroxisomal disorders
- Wikipedia's article - Peroxisomal disorders
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