Infantile Refsum disease
Infantile Refsum Disease
Infantile Refsum Disease (pronunciation: in-fan-tile ref-sum disease) is a rare genetic disorder that affects multiple organ systems and is characterized by the accumulation of certain fatty acids, known as phytanic acids, in the blood and tissues.
Etymology
The disease is named after the Norwegian neurologist Sigvald Refsum, who first described a similar but distinct condition known as Refsum disease in 1945. The term "infantile" is used to distinguish this disorder from the adult form of Refsum disease, as symptoms typically appear in infancy or early childhood.
Symptoms
Symptoms of Infantile Refsum Disease can vary widely among affected individuals. They may include retinitis pigmentosa, a condition that causes progressive vision loss, as well as polyneuropathy, a condition affecting the peripheral nerves. Other symptoms can include hearing loss, intellectual disability, and speech difficulties.
Causes
Infantile Refsum Disease is caused by mutations in the PEX1, PEX6, or PEX10 genes. These genes are involved in the breakdown of certain fats in the body, and mutations can lead to an accumulation of these fats, causing damage to various tissues and organs.
Diagnosis
Diagnosis of Infantile Refsum Disease typically involves a combination of clinical examination, family history, and laboratory testing. This may include blood tests to measure the levels of phytanic acid and other fats, as well as genetic testing to identify mutations in the PEX genes.
Treatment
There is currently no cure for Infantile Refsum Disease. Treatment is typically supportive and aims to manage symptoms and improve quality of life. This may include dietary restrictions to limit the intake of phytanic acid, as well as various therapies to manage symptoms such as vision loss, hearing loss, and physical disabilities.
Related Terms
External links
- Medical encyclopedia article on Infantile Refsum disease
- Wikipedia's article - Infantile Refsum disease
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