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