About The Medical Condition Type I Hypertyrosinemias
Find the definition of the medical term Type I Hypertyrosinemias. Type I Hypertyrosinemias defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Type I Hypertyrosinemias
| Type I Hypertyrosinemias Medical Condition |
|---|
What's The Definition Of The Medical Condition Type I Hypertyrosinemias?
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
- MAPKK ‐ A serine-threonine protein kinase family whose members are components…
- Factor, Predisposing ‐ The relating of causes to the effects they produce. Causes are…
- Viruses, Lymphoproliferative ‐ A subfamily of HERPESVIRIDAE characterized by variable reproductive…
- Ro 40-5967 ‐ A benzimidazoyl-substituted tetraline that selectively binds…
- Optimum Population ‐ The pattern of any process, or the interrelationship of phenomena,…
- Gene, MDR ‐ Genes responsible for multidrug resistance resulting from their…
- Specialist, Information ‐ Organized services to provide information on any questions an…
- Marker, Serum ‐ Measurable and quantifiable biological parameters (e.g., specific…
- Fixation, Nitrogen ‐ Ability of certain bacteria, fungi, and blue-green algae to convert…
- Thioguanine Hemihydrate ‐ An antineoplastic compound which also has antimetabolite action.…