About The Medical Condition Hemeralopia Heredoataxia Polyneuritiformis
Find the definition of the medical term Hemeralopia Heredoataxia Polyneuritiformis. Hemeralopia Heredoataxia Polyneuritiformis defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hemeralopia Heredoataxia Polyneuritiformis
| Hemeralopia Heredoataxia Polyneuritiformis Medical Condition |
|---|
What's The Definition Of The Medical Condition Hemeralopia Heredoataxia Polyneuritiformis?
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
- Limit Dextrinosis ‐ An autosomal recessive metabolic disorder due to deficient expression…
- Deductibles and Coinsurance ‐ Cost-sharing mechanisms that provide for payment by the insured…
- Sequence Analysis ‐ A multistage process that includes the determination of a sequence…
- Cell Death, Programmed ‐ One of the two mechanisms by which CELL DEATH occurs (the other…
- Hemispatial Neglect ‐ Cognitive disorders characterized by an impaired ability to perceive…
- Deficiency, IgA ‐ A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN…
- Platelet Adhesiveness ‐ The process whereby platelets adhere to something other than…
- Carcinomas, Anaplastic ‐ A malignant neoplasm made up of epithelial cells tending to infiltrate…
- Joint Prosthesis Implantations ‐ Partial or total replacement…
- Identity Disorder, Dissociative ‐ A dissociative disorder in which the individual adopts two or…