Other terms
Disease, Refsum,Hereditary Motor and Sensory Neuropathy, Type IV,Hereditary Type IV Motor and Sensory Neuropathy,Heredopathia Atactica Polyneuritiformis,Polyneuritiformis, Heredopathia Atactica,HMSN 4,Neuropathy, Hereditary Motor and Sensory, Type IV,Phytanic Acid Storage Disease,Refsum's Disease,Disease, Refsum's,Refsums Disease,Refsum's Syndrome,Refsum Syndrome,Refsums Syndrome,Syndrome, Refsum's,Refsum-Thiebaut Syndrome,Refsum Thiebaut Syndrome,Refsum-Thiebaut Syndromes,Syndrome, Refsum-Thiebaut,Syndromes, Refsum-Thiebaut,Hemeralopia Heredoataxia Polyneuritiformis,Heredoataxia Polyneuritiformis, Hemeralopia,Polyneuritiformis, Hemeralopia Heredoataxia,HMSN Type IV,Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency,Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency,Refsum Disease, Phytanic Acid Oxidase Deficiency
Description
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.
Pervious tree
Next tree
Other locations in tree
Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
Neither the United States Government, nor any of its agencies, contractors, subcontractors or employees makes any warranties, expressed or implied, with respect to data contained in the database, and, furthermore, assumes no legal liability for any party's use, or the results of such use, of any part of the database.
You will not assert any proprietary rights to any portion of the database, or represent the database or any part thereof to anyone as other than a United States Government database.
The MeSH data carry an international copyright outside the United States, its Territories or Possessions. These terms and conditions are in effect as long as the user retains any of the MeSH data obtained from this site.