REFSUM SYNDROME Meaning and
Definition
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Refsum syndrome is a rare, inherited metabolic disorder classified as a peroxisomal disorder. It is characterized by an impaired ability to break down a specific type of fat called phytanic acid. Normally, an enzyme called phytanoyl-CoA hydroxylase breaks down phytanic acid into a harmless substance, but in individuals with Refsum syndrome, this enzyme is defective or lacking. As a result, phytanic acid accumulates in the body, leading to various symptoms and complications.
The excess buildup of phytanic acid in Refsum syndrome primarily affects the nervous system, skin, and other organs. Symptoms may include vision loss or impaired night vision, hearing loss, balance and coordination problems, muscle weakness, progressive muscle wasting, anosmia (loss of sense of smell), dry skin, bone abnormalities, and cardiac issues. Many individuals with Refsum syndrome also experience intellectual disability or learning difficulties.
Treatment for Refsum syndrome focuses on managing the symptoms and preventing new symptoms from developing. This generally involves following a strict diet low in phytanic acid, which helps to limit the accumulation of phytanic acid in the body. Additionally, certain medications and therapies may be used to address specific symptoms, such as hearing aids for hearing loss or physical therapy for muscle weakness.
Due to its rarity, Refsum syndrome is often overlooked or misdiagnosed. Early diagnosis and treatment are vital for minimizing the long-term complications and improving quality of life for individuals with this genetic disorder. Genetic counseling is also an important aspect for affected individuals and their families to better understand the inheritance pattern and potential risks.
Common Misspellings for REFSUM SYNDROME
- eefsum syndrome
- defsum syndrome
- fefsum syndrome
- tefsum syndrome
- 5efsum syndrome
- 4efsum syndrome
- rwfsum syndrome
- rsfsum syndrome
- rdfsum syndrome
- rrfsum syndrome
- r4fsum syndrome
- r3fsum syndrome
- redsum syndrome
- recsum syndrome
- revsum syndrome
- regsum syndrome
- retsum syndrome
- rersum syndrome
- refaum syndrome
- refzum syndrome
Etymology of REFSUM SYNDROME
The word "Refsum syndrome" is derived from the name of the Norwegian neurologist Sigvald Bernhard Refsum, who first described the condition in 1946.
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