About The Medical Condition Steely Hair Syndrome
Find the definition of the medical term Steely Hair Syndrome. Steely Hair Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Steely Hair Syndrome
| Steely Hair Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Steely Hair Syndrome?
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
- Lesions, Bullous ‐ Visible accumulations of fluid within or beneath the…
- Werdnig-Hoffmann Disease ‐ A group of recessively inherited diseases that feature progressive…
- Entrapment Neuropathy, Carpal Tunnel ‐ Entrapment of the MEDIAN NERVE in the carpal tunnel, which is…
- Distribution, Statistical ‐ The complete summaries of the frequencies of the values or categories…
- Pseudomonas Infection ‐ Infections with bacteria of the genus…
- Sulfate, Polymyxin B ‐ A mixture of polymyxins B1 and B2, obtained from Bacillus polymyxa…
- Immunoglobulin G ‐ The major immunoglobulin in normal…
- Detoxication, Sorption ‐ Elimination of toxic or biologically active substances from body…
- Stenoses, Pulmonary Subvalvular ‐ Stenosis of the conus arteriosus (infundibulum) with or without…
- Phosphatase G, Protein ‐ An enzyme that catalyzes the conversion of phosphorylated, inactive…