How many people have Refsum disease?
Refsum disease occurs in approximately 1 in 1,000,000 people.
Which enzyme is responsible generating Refsum disease if absent?
Adult Refsum disease (ARD), also referred to as “classic Refsum disease,” is a peroxisomal disorder. In the majority of individuals, it is caused by a deficiency of the peroxisomal enzyme phytanoyl-CoA hydroxylase due to biallelic pathogenic variants in PHYH.
How does infantile Refsum disease affect peroxisomes?
Infantile Refsum disease (IRD) is characterized by a mutation in the genes responsible for development of peroxisomes, structures within cells that are responsible for the breakdown of fatty acids.
Is there a cure for Refsum disease?
Although there is no cure, phytanate levels in Refsum disease patients can be reduced by plasmapheresis and a strict diet. Pharmacological up-regulation of the omega-oxidation of phytanic acid may form the basis of the new treatment strategy for adult Refsum disease in the near future.
What foods contain phytanic acid?
Fish, lamb, beef, and dairy products are rich sources of phytanic acid. Restriction of dietary consumption to 10–20 mg/day is required to decrease serum levels.
Is Refsum disease treatable?
Why does phytanic acid accumulate in Refsum disease?
Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues. This may be due to deficiencies of phytanoyl-CoA hydroxylase or peroxin-7 activity.
Who discovered Refsum?
Refsum disease was first recognized as a distinct disease entity by Sigvald Refsum in the 1940s. The discovery of markedly elevated levels of the branched-chain fatty acid phytanic acid in certain patients marked Refsum disease as a disorder of lipid metabolism.
What is Zellweger syndrome and adrenoleukodystrophy?
The severe form was known as Zellweger syndrome, the intermediate form was neonatal adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a single condition when they were found to be part of the same condition spectrum.
Which foods contain phytanic acid?
What is Refsum disease and what causes it?
Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting;
What is adult Refsum disease (ARD)?
Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).
What causes vision loss with Refsum disease?
The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
What is the National Organization for Rare Disorders (NORD) report?
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.