About The Medical Condition Citrullinemia
Find the definition of the medical term Citrullinemia. Citrullinemia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Citrullinemia
| Citrullinemia Medical Condition |
|---|
What's The Definition Of The Medical Condition Citrullinemia?
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
|
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…