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Refsum disease (medical condition): A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase...more »
Refsum disease: autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.
Refsum disease: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Refsum disease:
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 if affects 1 person per 2,000.
They list Refsum disease as a "rare disease".
Source - Orphanet
Refsum disease: Refsum disease is listed as a type of (or associated with) the following medical conditions in our database:
Refsum disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin... (Source: excerpt from NINDS Refsum Disease Information Page: NINDS)
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... (Source: excerpt from NINDS Refsum Disease Information Page: NINDS)
These medical disease topics may be related to Refsum disease:
Source - NIH
Source - MeSH 2007
Source - MeSH 2007
Source - CRISP
The following list attempts to classify Refsum disease into categories where each line is subset of the next.
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