Tag: Refsum disease

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.

Affecting approximately one in a million people, Adult Refsum disease is a rare metabolic disorder that necessitates a specific eating plan. Understanding what is the Refsum diet for adults is crucial for managing this inherited condition and mitigating the accumulation of harmful phytanic acid in the body.

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.

Phytanic acid is a branched-chain fatty acid that humans cannot produce internally and must acquire solely from their diet. It is almost exclusively found in foods from animal sources, with ruminant animals and certain fish being the most significant contributors. The acid originates from the breakdown of phytol, a component of chlorophyll, by bacteria in the digestive systems of these animals.

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.

According to scientific research, the primary dietary sources of phytanic acid for humans are fats derived from ruminant animals and certain types of fish. This is because ruminant animals, such as cows and sheep, process chlorophyll from plants into phytanic acid in their digestive system, which then accumulates in their fat.

Phytanic acid is not produced by the human body and is obtained exclusively from dietary sources like ruminant fats and certain fish. For individuals with specific metabolic conditions, understanding what foods are high in phytanic acid is crucial for their health management.