About The Medical Condition Tyrosinemia, Type I
Find the definition of the medical term Tyrosinemia, Type I. Tyrosinemia, Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Tyrosinemia, Type I
| Tyrosinemia, Type I Medical Condition |
|---|
What's The Definition Of The Medical Condition Tyrosinemia, 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
- Myopathy, Rod ‐ A group of inherited congenital myopathic conditions characterized…
- Dietary Fat ‐ Fats present in food, especially in animal products such as meat,…
- Radionuclide Angiocardiographies, Equilibrium ‐ Radionuclide ventriculography where scintigraphic data is acquired…
- Acetonide 21-Acetate, Fluocinolone ‐ A topical glucocorticoid used in the treatment…
- Obstructive Hydrocephalus ‐ Excessive accumulation of cerebrospinal fluid within the cranium…
- Glutamyl T RNA Synthetase ‐ An enzyme that activates glutamic acid with its specific transfer…
- Grafts ‐ Organs, tissues, or cells taken from the body for grafting into…
- Muscle Fibers, Red ‐ Skeletal muscle fibers having high myofibrillar ATPase activity,…
- Therapies, Exercise ‐ Motion of the body or its parts to relieve symptoms or to improve…
- Esophageal Diverticuloses ‐ Saccular, outward protrusion of all or a portion of the esophageal…