About The Medical Condition Heredoataxia Polyneuritiformi, Hemeralopia
Find the definition of the medical term Heredoataxia Polyneuritiformi, Hemeralopia. Heredoataxia Polyneuritiformi, Hemeralopia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Heredoataxia Polyneuritiformi, Hemeralopia
| Heredoataxia Polyneuritiformi, Hemeralopia Medical Condition |
|---|
What's The Definition Of The Medical Condition Heredoataxia Polyneuritiformi, 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
- Arthroplasties, Replacement, Knee ‐ Replacement of the…
- Soya Oil ‐ Oil from soybean or…
- Tyrosine Aminotransferase ‐ An enzyme that catalyzes the conversion of L-TYROSINE and 2-oxoglutarate…
- Memory Losses, Retrograde ‐ Loss of the ability to recall information that had been previously…
- Deformities, Foot ‐ Alterations or deviations from normal shape or size which result…
- Gas Gangrenes ‐ A severe condition resulting from bacteria invading healthy muscle…
- Neuron, Nitrergic ‐ Nerve cells where transmission is mediated by…
- Teonicol ‐ A vasodilator used in peripheral vascular disorders and insufficiency.…
- Beryllium ‐ Beryllium. An element with the atomic symbol Be, atomic number…
- Hormone Receptors, Nuclear ‐ Proteins in the cytoplasm or nucleus that specifically bind signaling…