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 |
|---|
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)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Venom, Amphibian ‐ Venoms produced by frogs, toads, salamanders, etc. The venom…
- Leukemia Lymphoma Virus I, Adult T Cell ‐ A strain of PRIMATE T-LYMPHOTROPIC VIRUS 1 isolated from mature…
- Trigonella ‐ A plant genus of the family…
- Reaction, Ligase Chain ‐ A DNA amplification technique based upon the ligation of OLIGONUCLEOTIDE…
- Cholesterol Acyltransferase, Lecithin ‐ An enzyme secreted from the liver into the plasma of many mammalian…
- Fucosidosis, Infantile ‐ An autosomal recessive lysosomal storage disease caused by a…
- Disease Model, Animal ‐ Animal disease whose pathologic mechanisms are sufficiently similar…
- Respirators, Negative-Pressure ‐ Body ventilators that assist ventilation by applying intermittent…
- Sarcomas, Epithelioid ‐ A connective tissue neoplasm formed by proliferation of mesodermal…
- Amphetamine Users ‐ Disorders related or resulting from use of…