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
- Sulfhydrase, Serine ‐ A multifunctional pyridoxal phosphate enzyme. In the second stage…
- Acoustic ‐ The branch of physics that deals with sound and sound waves.…
- Entamoeba histolytica ‐ A species of parasitic protozoa causing ENTAMOEBIASIS and amebic…
- Pregnancy-Associated Choreoathetoses ‐ A rare disorder characterized by the development of chorea, athetosis,…
- Neocortices ‐ The largest portion of the CEREBRAL CORTEX. It is composed of…
- Brachiocephalic Trunk ‐ The first and largest artery branching from the aortic arch.…
- Cancer, Adrenal Cortex ‐ Tumors or cancers of the cortex of the…
- Vaginotomy ‐ An incision in…
- Hyperammonemias, Cerebroatrophic ‐ An inherited disorder that is associated with X-linked transmission…
- Rosaniline Dyes ‐ Any dye or mixture of dyes made from rosaniline, a red triphenylmethane…