About The Medical Condition Polyneuritiformis, Heredopathia Atactica
Find the definition of the medical term Polyneuritiformis, Heredopathia Atactica. Polyneuritiformis, Heredopathia Atactica defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Polyneuritiformis, Heredopathia Atactica
| Polyneuritiformis, Heredopathia Atactica Medical Condition |
|---|
What's The Definition Of The Medical Condition Polyneuritiformis, Heredopathia Atactica?
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
- Gene Product, vif ‐ A 23 kDa regulatory protein important for virion infectivity…
- Gastrin Receptors ‐ Cell surface proteins that bind cholecystokinin (CCK) with high…
- Engine Exhaust ‐ Gases, fumes, vapors, and odors escaping from the cylinders of…
- Methicillin Sodium ‐ One of the PENICILLINS which is resistant to penicillinase but…
- Sarcoma, Osteogenic ‐ A sarcoma originating in bone-forming cells, affecting the ends…
- Vegetative State, Transient ‐ Vegetative state refers to the neurocognitive status of individuals…
- Gray Whales ‐ Large marine mammals of the order Cetacea. In the past, they…
- Neutrophil Antimicrobial Peptides ‐ DEFENSINS found in azurophilic granules of neutrophils and in…
- Syncytial Viruses, Respiratory ‐ A group of viruses in the PNEUMOVIRUS genus causing respiratory…
- Ammonia-Lyase, Ethanolamine ‐ An enzyme that catalyzes the deamination of ethanolamine to acetaldehyde.…