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
- Child Mortalities ‐ Perinatal, neonatal, and infant deaths in a given…
- Allotype, kappa ‐ Hereditary serologic types based on antigenic differences in…
- Conformation, Carbohydrate ‐ The characteristic 3-dimensional shape of a…
- Heymanns Antigen ‐ A complex of antigenic proteins obtained from the brush border…
- Animal Helminthiases ‐ Infestation of animals with parasitic worms of the helminth class.…
- Wheat ‐ The most nutritious of the cereal grasses (POACEAE), Triticum…
- Glycerol Ethers ‐ Compounds in which one or more of the three hydroxyl groups of…
- Organothiophosphorus Compounds ‐ Compounds containing carbon-phosphorus bonds in which the phosphorus…
- Surgical Procedures, Minor ‐ Surgery restricted to the management of minor problems and injuries;…
- Macrophage Inflammatory Proteins ‐ Heparin-binding proteins that exhibit a number of inflammatory…