About The Medical Condition Hyperammonemias, Cerebroatrophic
Find the definition of the medical term Hyperammonemias, Cerebroatrophic. Hyperammonemias, Cerebroatrophic defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hyperammonemias, Cerebroatrophic
| Hyperammonemias, Cerebroatrophic Medical Condition |
|---|
What's The Definition Of The Medical Condition Hyperammonemias, Cerebroatrophic?
An inherited disorder that is associated with X-linked transmission and may be lethal in utero to hemizygous males. Clinically, birth and development in affected females is normal until the age of 6-25 months, when progressive loss of voluntary control of hand movements and communication skills, ataxia, stereotypic hand movements, seizures, autistic behavior, intermittent hyperventilation, and hyperammonemia appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
|
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
- Fistula, Esophagotracheal ‐ Abnormal communication between the esophagus and the trachea,…
- GdoI Endonuclease ‐ One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4).…
- CAT-1 Transport Protein ‐ A high-affinity, low capacity system y+ amino acid transporter…
- Paralyses, Myotonic Periodic ‐ An autosomal dominant familial disorder which presents in infancy…
- Amyloidosis, Familial ‐ Diseases in which there is a familial pattern of…
- Monoclate ‐ Blood-coagulation factor VIII. Antihemophilic factor that is…
- Win40680 ‐ A positive inotropic cardiotonic (CARDIOTONIC AGENTS) with vasodilator…
- Behavior Disorders, Social ‐ Behaviors which are at variance with the expected social norm…
- Vernal Conjunctivitis ‐ Conjunctivitis due to hypersensitivity to various…
- Complexes, Ventricular Premature ‐ Premature contractions of the ventricle, the most common of all…