About The Medical Condition Carbamoyl-Phosphate Synthase I Deficiency Disease
Find the definition of the medical term Carbamoyl-Phosphate Synthase I Deficiency Disease. Carbamoyl-Phosphate Synthase I Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Carbamoyl-Phosphate Synthase I Deficiency Disease
| Carbamoyl-Phosphate Synthase I Deficiency Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Carbamoyl-Phosphate Synthase I Deficiency Disease?
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
|
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
- Theory, Jungian ‐ A theoretical psychoanalytical system centered around symbols…
- American, Chinese ‐ Persons living in the United States having origins in any of…
- Muscles, Palatal ‐ The muscles of the palate are the glossopalatine, palatoglossus,…
- Amstelodamensis, Typus Degenerativus ‐ A syndrome characterized by growth retardation, severe MENTAL…
- Fenestration, Labyrinth ‐ The surgical creation of a new opening in the labyrinth of the…
- Syndrome, Aortitis ‐ Any of a group of disorders leading to occlusion of the arteries…
- Posterior Fossa Tumors ‐ Intracranial tumors originating in the region of the brain inferior…
- Naloxone Hydrobromide ‐ A specific opiate antagonist that has no agonist activity. It…
- Glucose Transport Protein ‐ Membrane transport proteins which bind glucose and sodium ions…
- Complement Inactivators ‐ Serum proteins which act at key sites in the complement sequence…