Refsum Disease: Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Refsum Disease.
Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders. More detailed information about the symptoms, causes, and treatments of Refsum Disease is available below.
See full list of 31 symptoms of Refsum Disease
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Prognosis for Refsum Disease: death usually occurs after a few years but timely treatment can be very helpful
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Refsum disease is a rare disorder of lipid metabolism that is inherited as a recessive trait. (Source: Genes and Disease by the National Center for Biotechnology)
Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain. Refsum disease is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues. (Phytanic acid is not made in the human body; it comes from the diet—dairy products, beef, lamb, and some seafood). (Source: excerpt from NINDS Refsum Disease Information Page: NINDS)
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY, sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) - (Source - Diseases Database)
Refsum Disease is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Refsum Disease, or a subtype of Refsum Disease,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Refsum Disease as a "rare disease".
Source - Orphanet
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