About The Medical Condition Heredoataxia Polyneuritiformis, Hemeralopia
Find the definition of the medical term Heredoataxia Polyneuritiformis, Hemeralopia. Heredoataxia Polyneuritiformis, Hemeralopia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Heredoataxia Polyneuritiformis, Hemeralopia
Heredoataxia Polyneuritiformis, Hemeralopia Medical Condition |
---|
What's The Definition Of The Medical Condition Heredoataxia Polyneuritiformis, Hemeralopia?
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
- Viruses, Tumor ‐ Viruses that…
- Bis(Phenol A-Glycydyl Methacrylate) ‐ The reaction product of bisphenol A and glycidyl methacrylate…
- Pregnanes ‐ Saturated derivatives of the steroid pregnane. The 5-beta series…
- Arenaviruses, Old World ‐ One of two groups of viruses in the ARENAVIRUS genus and considered…
- Enteroglucagon ‐ Glucagon-like polypeptide secreted in the intestinal tract. It…
- Dystrophies, Myotonic ‐ An autosomal dominant neuromuscular disorder which usually presents…
- Taractan ‐ A thioxanthine with effects similar to the phenothiazine…
- Paroxetine Acetate ‐ A serotonin uptake inhibitor that is effective in the treatment…
- Pesticide Residues ‐ Pesticides or their breakdown products remaining in the environment…
- Oxidation-Reduction ‐ A chemical reaction in which an electron is transferred from…