Refsum disease - what does this mean
Refsum disease is an inherited disorder caused by a deficiency of an enzyme called phytanoyl-coa hydroxylase, which leads to the accumulation of phytanic acid in the body. this can cause damage to the nervous system, eyes, heart, and other organs. symptoms may include hearing loss, vision problems, ataxia, peripheral neuropathy, and skeletal abnormalities.
What happens during the disease - refsum disease
Refsum disease is an autosomal recessive disorder caused by a deficiency in the enzyme phytanoyl-coa hydroxylase, resulting in the accumulation of phytanic acid in the body. this accumulation leads to a variety of symptoms, including peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia, hearing loss, and cardiomyopathy. it can also cause skeletal abnormalities, such as scoliosis.
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Refsum disease.
- Regular exercise
- A low-fat diet
- Avoiding alcohol and smoking
- Taking vitamin B supplements
- Wearing supportive shoes
- Taking medications to reduce nerve pain
- Physical therapy to improve strength and coordination
- Surgery to correct joint deformities
- Occupational therapy to improve daily functioning
- Speech therapy to improve communication skills

18 Days of Hospitalization Required

Average Time for Outpatient Care Not Established
Refsum disease - Prevention
Refsum disease can be prevented by avoiding exposure to phytanic acid, which is found in some animal fats, dairy products, and certain fish. it is also recommended to limit the intake of alcohol, as this can increase the risk of developing the disease.