About The Medical Condition Hypertyrosinemias, Type I
Find the definition of the medical term Hypertyrosinemias, Type I. Hypertyrosinemias, Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hypertyrosinemias, Type I
| Hypertyrosinemias, Type I Medical Condition |
|---|
What's The Definition Of The Medical Condition Hypertyrosinemias, Type I?
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
- Police Officer ‐ Agents of the law charged with the responsibility of maintaining…
- Databank, Genetic ‐ DATABASES devoted to knowledge about specific genes and gene…
- Squirrel ‐ A family of the order Rodentia which contains 49 genera. Some…
- Protein Activator, Phosphodiesterase ‐ A heat-stable, low-molecular-weight activator protein found mainly…
- Kennedy Syndrome ‐ A group of disorders marked by progressive degeneration of motor…
- Traffic Accident ‐ Accidents on streets, roads, and highways involving drivers,…
- Kanamycin ‐ Antibiotic complex produced by Streptomyces kanamyceticus from…
- Behavior, Nesting ‐ Animal behavior associated with the nest; includes construction,…
- Cytohistological Preparation Technics ‐ Methods of preparing cells or tissues for examination and study…
- Child Nutrition ‐ Nutrition of children aged…