About The Medical Condition Steely Hair Diseases
Find the definition of the medical term Steely Hair Diseases. Steely Hair Diseases defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Steely Hair Diseases
| Steely Hair Diseases Medical Condition |
|---|
What's The Definition Of The Medical Condition Steely Hair Diseases?
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
- Food Allergies ‐ Gastrointestinal disturbances, skin eruptions, or shock due to…
- Creatine Phosphotransferase, ATP ‐ A transferase that catalyzes formation of phosphocreatine from…
- Streptomyces erythraea ‐ A genus of gram-positive bacteria whose spores are round to oval…
- Fibromyomas ‐ A benign tumor derived from smooth muscle tissue, also known…
- Dengue ‐ An acute infectious, eruptive, febrile disease caused by four…
- Tissue Typings ‐ Identification of the major histocompatibility antigens of transplant…
- Cranial Nerves, Sixth ‐ The 6th cranial nerve. The abducens nerve originates in the abducens…
- Cicuta maculata ‐ A plant genus of the family APIACEAE. It is a source of…
- Epizootic hemorrhagic disease virus ‐ A species of ORBIVIRUS causing a fatal disease in deer. It is…
- Chlormezanone ‐ A non-benzodiazepine that is used in the management of anxiety.…