About The Medical Condition Syndromes, Refsum-Thiebaut
Find the definition of the medical term Syndromes, Refsum-Thiebaut. Syndromes, Refsum-Thiebaut defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Syndromes, Refsum-Thiebaut
| Syndromes, Refsum-Thiebaut Medical Condition |
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What's The Definition Of The Medical Condition Syndromes, Refsum-Thiebaut?
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)
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