Refsum disease

Phytanic acid

Refsum disease is a rare, autosomal recessive genetic disorder that affects the metabolism of phytanic acid, a type of fatty acid. It is characterized by the accumulation of phytanic acid in the blood and tissues, leading to a variety of symptoms.

Pathophysiology

Refsum disease is caused by mutations in the PHYH gene or the PEX7 gene. These genes are responsible for the breakdown of phytanic acid. When these genes are mutated, phytanic acid accumulates in the body, leading to the symptoms of the disease.

Symptoms

The symptoms of Refsum disease can vary widely but often include:

• Retinitis pigmentosa, leading to progressive vision loss
• Peripheral neuropathy, causing muscle weakness and numbness
• Cerebellar ataxia, resulting in coordination problems
• Hearing loss
• Ichthyosis, a skin condition characterized by dry, scaly skin
• Cardiomyopathy, affecting the heart muscle

Diagnosis

Diagnosis of Refsum disease typically involves:

• Blood tests to measure levels of phytanic acid
• Genetic testing to identify mutations in the PHYH or PEX7 genes
• Clinical evaluation of symptoms

Treatment

There is no cure for Refsum disease, but treatment focuses on managing symptoms and reducing phytanic acid levels. This can include:

• Dietary restrictions to limit intake of phytanic acid
• Plasmapheresis to remove phytanic acid from the blood
• Management of specific symptoms, such as vision aids for retinitis pigmentosa or physical therapy for peripheral neuropathy

Prognosis

The prognosis for individuals with Refsum disease varies. Early diagnosis and management can improve quality of life and reduce the risk of complications. However, the disease is progressive, and symptoms may worsen over time.

Related Pages

• Genetic disorder
• Autosomal recessive inheritance
• Fatty acid metabolism
• Retinitis pigmentosa
• Peripheral neuropathy
• Cerebellar ataxia
• Ichthyosis
• Cardiomyopathy

See Also

• List of genetic disorders
• Metabolic disorder

External Links

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