REFSUM DISEASE Meaning and
Definition
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Refsum disease, also known as heredopathia atactica polyneuritiformis, is a rare inherited disorder characterized by the accumulation of high levels of phytanic acid in the body. This condition is caused by a deficiency of an enzyme called phytanoyl-CoA hydroxylase (PAHX), which is responsible for the breakdown of phytanic acid in the body. As a result, phytanic acid builds up to toxic levels in various tissues, including the blood and nervous system.
The excessive accumulation of phytanic acid leads to a wide range of symptoms, such as progressive vision loss, muscle weakness and wasting, hearing loss, poor balance and coordination, loss of smell, and peripheral neuropathy. Other neurological features may include impaired cognition, ataxia, and peripheral neuropathy. Furthermore, individuals with Refsum disease may exhibit distinctive physical features such as retinitis pigmentosa, facial abnormalities, and skeletal abnormalities.
Diagnosis of Refsum disease is typically based on clinical evaluation, including a detailed medical history, physical examination, and biochemical testing. Genetic testing may also be used to confirm the diagnosis by identifying mutations in the PAHX gene. Treatment options for Refsum disease mainly involve dietary management, aiming to reduce the levels of phytanic acid through a low-phytanic acid diet. Removing or limiting dietary sources of phytanic acid, such as certain types of meat, dairy products, and fish, and using oral medications like glycerol trioleate may help manage the symptoms and slow down the progression of the disease.
Common Misspellings for REFSUM DISEASE
- eefsum disease
- defsum disease
- fefsum disease
- tefsum disease
- 5efsum disease
- 4efsum disease
- rwfsum disease
- rsfsum disease
- rdfsum disease
- rrfsum disease
- r4fsum disease
- r3fsum disease
- redsum disease
- recsum disease
- revsum disease
- regsum disease
- retsum disease
- rersum disease
- refaum disease
- refzum disease
Etymology of REFSUM DISEASE
The word "Refsum" in "Refsum disease" is derived from the surname of Norwegian neurologist Sigvald Bernhard Refsum, who first described the disorder in 1946. Refsum disease, also known as hereditary motor and sensory neuropathy type IV (HMSN IV), is a rare genetic disorder characterized by the accumulation of phytanic acid in the body.
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