Peroxisomal disorder

Peroxisomal disorders are a group of genetic disorders that primarily affect the peroxisome, a type of organelle found in virtually all eukaryotic cells. These disorders are characterized by the reduction or absence of functional peroxisomes, leading to a variety of metabolic abnormalities.

Classification

Peroxisomal disorders can be classified into two main categories: Peroxisome biogenesis disorders (PBDs) and Single enzyme deficiencies (SEDs).

Peroxisome Biogenesis Disorders

PBDs are a group of disorders that result from defects in the genes responsible for peroxisome assembly and maintenance. This category includes Zellweger spectrum disorders, which comprise Zellweger syndrome, Neonatal Adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD).

Single Enzyme Deficiencies

SEDs are disorders that result from defects in a single peroxisomal enzyme. Examples of SEDs include Adrenoleukodystrophy (ALD), Acatalasia, and Phytanic acid oxidase deficiency.

Symptoms

The symptoms of peroxisomal disorders vary widely and can affect many different parts of the body. Common symptoms include developmental delay, seizures, hearing loss, vision problems, liver disease, and kidney disease.

Diagnosis

Diagnosis of peroxisomal disorders is often based on clinical symptoms, family history, and specialized laboratory tests. Genetic testing can confirm a diagnosis and help identify the specific type of peroxisomal disorder.

Treatment

There is currently no cure for peroxisomal disorders. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, occupational therapy, speech therapy, and medication to manage seizures and other symptoms.

See also

• Organelle
• Metabolic disorder
• Genetic disorder

References

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