Tag: Peroxisomal disorder

According to the Foundation Fighting Blindness, Refsum disease is a metabolic disorder caused by faulty genes that impair the ability to metabolize phytanic acid, a fat found in certain foods, which then accumulates to toxic levels in the body. Managing and reducing phytanic acid is a critical concern for those with this rare genetic condition.

Approximately 90% of adult Refsum disease cases, a primary cause of high phytanic acid, result from mutations in the *PHYH* gene. This rare genetic disorder impairs the body's ability to metabolize a specific type of fatty acid, leading to toxic accumulation over time.

Refsum disease is a rare, inherited metabolic disorder characterized by the inability to break down phytanic acid, a type of fatty acid found in certain foods, leading to its dangerous accumulation in the body's tissues. A strict, low-phytanic-acid diet is the cornerstone of managing this condition and preventing progressive neurological and vision problems.