adult Refsum disease

Adult Refsum disease is a very rare, multisystem metabolic disorder that affects several parts of the body. It is known for its clinical variability, meaning that people with this condition may experience a range of symptoms in different body systems. The condition is characterized by the abnormal buildup of phytanic acid in the plasma and tissues, which is linked to its metabolic nature. The disorder is noted for causing anosmia (loss of smell) and early-onset retinitis pigmentosa (a condition affecting the eyes). In addition, it may lead to neurological issues such as neuropathy and cerebellar ataxia, along with other potential features like deafness, skin changes (ichthyosis), skeletal abnormalities, and cardiac arrhythmia.

People with adult Refsum disease may experience loss of smell and early vision problems due to retinitis pigmentosa. They might also face neurological symptoms including neuropathy and problems with balance due to cerebellar ataxia. Other signs that can occur include hearing loss, dry and scaly skin (ichthyosis), skeletal issues, and irregular heart rhythms.

Adult Refsum disease is a metabolic disorder that is related to the accumulation of phytanic acid. It is caused by a defect in the way the body processes this fatty acid, which has been linked to mutations in the PHYH gene.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.