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
- Annular Groove ‐ A disorder present in the newborn infant in which constriction…
- Monograph (PT) ‐ In cataloging, any publication that is not a serial. It is usually…
- Associated Fibril-Protein, Scrapie ‐ Protease-resistant core of PrPSC, the abnormal isoform of prion…
- Germ Layers ‐ The three layers of cells comprising the…
- Uroporphyrinogen Synthetase ‐ An enzyme that catalyzes the formation of hydroxymethylbilane…
- Deficiency Disease Hexosaminidase A ‐ An autosomal recessive inherited gangliosidosis characterized…
- Pharmacy Education, Continuing ‐ Educational programs designed to inform graduate pharmacists…
- Organisms, GMO ‐ Organisms whose GENOME has been changed by a GENETIC ENGINEERING…
- Lyase, Chondroitin Sulfate ‐ Enzymes which catalyze the elimination of delta-4,5-D-glucuronate…
- Induced Hypothermia ‐ Abnormally low body temperature intentionally induced in warm-blooded…