About The Medical Condition Type I Tyrosinemias
Find the definition of the medical term Type I Tyrosinemias. Type I Tyrosinemias defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type I Tyrosinemias
| Type I Tyrosinemias Medical Condition |
|---|
What's The Definition Of The Medical Condition Type I Tyrosinemias?
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features mental retardation, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
|
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…