About The Medical Condition Disease, Steely Hair
Find the definition of the medical term Disease, Steely Hair. Disease, Steely Hair defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Steely Hair
| Disease, Steely Hair Medical Condition |
|---|
What's The Definition Of The Medical Condition Disease, Steely Hair?
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
|
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
- Cytochrome P-450-Dependent Monooxygenase ‐ Isozymes which are key components of the mixed-function oxidase…
- Periodicity ‐ The tendency of a phenomenon to recur at regular intervals; in…
- Nurses Instruction (PT) ‐ Materials developed for a nursing…
- Fourier Transform ‐ Analysis based on the mathematical function first formulated…
- Hypertension, Portal ‐ Abnormally increased pressure in the portal venous system; frequently…
- Encephalitozoonoses ‐ Infection with protozoa of the genus ENCEPHALITOZOON. Lesions…
- Retinaldehyde ‐ A carotenoid constituent of visual pigments. It is the oxidized…
- Hot Flashes ‐ A sudden, temporary sensation of heat predominantly experienced…
- Compounds, Mercapto ‐ Compounds containing the…
- Visual Illusion ‐ The misinterpretation of a real external, sensory…