What does Refsum disease affect?

The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina , the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

Is Refsum disease fatal?

Although it is rare, if phytanic acid levels become very high in people with Refsum disease, then a cardiac arrhythmia (irregular heartbeat) can occur which could be life threatening.

How common is Refsum disease?

About 60 cases of Refsum disease (RD) have been reported worldwide. Prevalence rates are not known but the disorder may be underdiagnosed. Prevalence has been estimated to be 1/1,000,000 in the United Kingdom. Males and females are affected equally.

How many people have Refsum?

Refsum disease occurs in approximately 1 in 1,000,000 people.

What breaks down phytanic acid?

Degradation of phytanic acid takes place by alpha-oxidation inside the peroxisome. A deficiency of its breakdown, leading to elevated levels, can result from either a general peroxisomal dysfunction or from a defect in one of the enzymes involved in alpha-oxidation.

Where does phytanic acid come from?

Specifically, PHYH codes for the phytanoyl-CoA hydroxylase enzyme that is used in the peroxisome to break down phytanic acid. Phytanic acid comes from the diet and is derived from bacterial fermentation of green plants or algae.

What are the symptoms of venous reflux disease?

Pain often accompanies the symptoms of venous reflux. Sometimes legs can feel itchy, sore, or heavy. In severe cases, you may develop a venous ulcer (a wound by your ankles) Your doctor will take a complete medical history and physical exam, taking special note of any changes in your skin temperature, color, and texture.

What are the symptoms of intestinal disease?

The symptoms vary widely depending on the problem. In general, you should see your doctor if you have. Blood in your stool. Changes in bowel habits. Severe abdominal pain. Unintentional weight loss. Heartburn not relieved by antacids.

What are the symptoms of Hirschsprung disease?

growth failure

  • swelling of the abdomen,or belly
  • unexplained fever
  • vomiting
  • What are symptoms of Hartnup disease?

    Symptoms of Hartnup Disease. The list of signs and symptoms mentioned in various sources for Hartnup Disease includes the 23 symptoms listed below: Itchy rash only on light exposed areas. Headache. Intermittent ataxia. Abdominal pain. Chest pain. Pain in the extremities.