Refsum disease

Refsum Disease

Refsum disease (pronounced: REF-suhm) is a rare genetic disorder characterized by the accumulation of phytanic acid in the blood and tissues, leading to a variety of symptoms.

Etymology

The disease is named after the Norwegian neurologist Sigvald Bernhard Refsum (1907–1991) who first described it in 1945.

Definition

Refsum disease is a disorder of lipid metabolism, specifically the inability to break down phytanic acid, a type of fatty acid. This results in an accumulation of phytanic acid in the blood and tissues, which can cause damage to the nervous system, skin, and eyes.

Symptoms

Symptoms of Refsum disease can vary widely among individuals but often include polyneuropathy, retinitis pigmentosa, and cerebellar ataxia. Other symptoms may include anosmia (loss of smell), cardiomyopathy, and ichthyosis (scaly skin).

Causes

Refsum disease is caused by mutations in the PHYH or PEX7 genes. These genes are involved in the breakdown of phytanic acid. When these genes are mutated, the body cannot properly break down phytanic acid, leading to its accumulation.

Diagnosis

Diagnosis of Refsum disease is based on clinical symptoms, a physical examination, and laboratory tests. These tests may include blood tests to measure the level of phytanic acid and genetic testing to identify mutations in the PHYH or PEX7 genes.

Treatment

Treatment for Refsum disease primarily involves dietary restrictions to limit the intake of phytanic acid. Other treatments may include plasmapheresis to remove phytanic acid from the blood and medications to manage symptoms.

Related Terms

External links

Medical encyclopedia article on Refsum disease
Wikipedia's article - Refsum disease

This WikiMD article is a stub. You can help make it a full article.

Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski