About The Medical Condition Congenital Hypocupremia
Find the definition of the medical term Congenital Hypocupremia. Congenital Hypocupremia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Congenital Hypocupremia
| Congenital Hypocupremia Medical Condition |
|---|
What's The Definition Of The Medical Condition Congenital Hypocupremia?
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
- Antigens, HLA-BR ‐ A group of D-related human leukocyte antigens that are polymorphic…
- Gene Expression Microarray Analysis ‐ Hybridization of a nucleic acid sample to a very large set of…
- Organization, Nongovernmental ‐ Administration and functional structures for the purpose of collectively…
- Pieces, Protective Mouth ‐ Devices or pieces of equipment placed in or around the mouth…
- Sphincterotomies, Transduodenal ‐ Surgery of the smooth muscle sphincter of the hepatopancreatic…
- Diabetic Neuropathy ‐ Peripheral, autonomic, and cranial nerve disorders that are associated…
- Cystitis, Chronic Interstitial ‐ A condition of the bladder occurring predominantly in women,…
- Occupational Noises ‐ Noise present in occupational, industrial, and factory…
- Arnold-Chiari Malformation, Type I ‐ A group of congenital malformations involving the brainstem,…
- Electromagnetic Radiation, Non-Ionizing ‐ Electromagnetic radiation which does not produce ions in matter…