About The Medical Condition Hemeralopia Heredoataxia Polyneuritiformi

ClusterMed

Find the definition of the medical term Hemeralopia Heredoataxia Polyneuritiformi. Hemeralopia Heredoataxia Polyneuritiformi defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Hemeralopia Heredoataxia Polyneuritiformi

Hemeralopia Heredoataxia Polyneuritiformi Medical Condition Defined & Explained
Hemeralopia Heredoataxia Polyneuritiformi Medical Condition

What's The Definition Of The Medical Condition Hemeralopia Heredoataxia Polyneuritiformi?

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