About The Medical Condition Syndrome, Steely Hair
Find the definition of the medical term Syndrome, Steely Hair. Syndrome, Steely Hair defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Syndrome, Steely Hair
| Syndrome, Steely Hair Medical Condition |
|---|
What's The Definition Of The Medical Condition Syndrome, 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
- Herpesvirus 2, Human ‐ A species of SIMPLEXVIRUS associated with genital infections…
- Transportation Noises ‐ Noise associated with transportation, particularly aircraft and…
- Switch Sequences, Ig ‐ A site on a segment of a B-cell immunoglobulin heavy-chain gene…
- Coal ‐ A natural fuel formed by partial decomposition of vegetable matter…
- Fatty Acid Desaturases ‐ Enzymes that catalyze the conversion of saturated fatty acid…
- Shared Services, Hospital ‐ Cooperation among hospitals for the purpose of sharing various…
- Family Planning, Natural ‐ Programs or services designed to assist the family in controlling…
- Ligases, Succinate-CoA ‐ Enzymes that catalyze the first step leading to the oxidation…
- Tauopathy ‐ Neurodegenerative disorders involving deposition of abnormal…
- Vectorcardiographies ‐ Recording of the moment-to-moment electromotive forces of the…