Peroxisomal disorder
Peroxisomal Disorder
Peroxisomal disorders are a group of rare, genetic diseases that primarily affect children, causing a range of medical problems. Some peroxisomal disorders are lethal before or shortly after birth; others permit survival into adulthood.
Pronunciation
Peroxisomal Disorder: /pɛrˌɒksɪˈsoʊməl dɪsˈɔːrdər/
Etymology
The term "peroxisomal disorder" is derived from the word "peroxisome", a type of organelle known to be involved in a number of cellular processes, primarily the breakdown of very long chain fatty acids through beta-oxidation. The term "disorder" refers to the disruption of normal bodily function.
Definition
Peroxisomal disorders are a group of inherited metabolic disorders that are caused by the absence or dysfunction of peroxisomes in the cells of the body. Peroxisomes are small, membrane-bound organelles that contain enzymes involved in a variety of metabolic reactions, including the breakdown of fatty acids and the detoxification of certain substances.
Types of Peroxisomal Disorders
There are two main types of peroxisomal disorders: Zellweger spectrum disorders and Rhizomelic chondrodysplasia punctata. Other peroxisomal disorders include Adrenoleukodystrophy, Infantile Refsum disease, and Acatalasemia.
Symptoms
Symptoms of peroxisomal disorders can vary greatly depending on the specific disorder and its severity. They may include developmental delay, vision and hearing problems, liver dysfunction, and abnormalities in bone development.
Diagnosis
Diagnosis of peroxisomal disorders typically involves a combination of clinical examination, laboratory testing, and genetic testing.
Treatment
Treatment for peroxisomal disorders is primarily supportive and symptomatic, as there is currently no cure for these conditions.
Related Terms
- Peroxisome
- Zellweger spectrum disorders
- Rhizomelic chondrodysplasia punctata
- Adrenoleukodystrophy
- Infantile Refsum disease
- Acatalasemia
External links
- Medical encyclopedia article on Peroxisomal disorder
- Wikipedia's article - Peroxisomal disorder
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