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
- Polypharmacy ‐ The use of multiple drugs administered to the same patient, most…
- Drug Compounding ‐ The preparation, mixing, and assembling of a drug. (From Remington,…
- Tumor, Adrenal Rest ‐ A rare, usually benign, ovarian tumor thought to be derived from…
- Contraceptive Methods Chosen ‐ Behavior patterns of those practicing…
- Dehydrogenase, NADP-Specific Glutamate ‐ An enzyme that catalyzes the conversion of L-glutamate, H2O,…
- Tamed Iodine ‐ Complexes of iodine and non-ionic surface-active agent acting…
- Autoimmune Myositis, Experimental ‐ Animal disease models that simulate human autoimmune disorders…
- Tripelennamine Hydrochloride ‐ A histamine H1 antagonist with low sedative action but frequent…
- Systems, Healthcare ‐ The concept concerned with all aspects of providing and distributing…
- Bone Lengthening ‐ Increase in the longest dimension of a bone to correct anatomical…