About The Medical Condition Hereditary Tyrosinemia, Type I
Find the definition of the medical term Hereditary Tyrosinemia, Type I. Hereditary Tyrosinemia, Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hereditary Tyrosinemia, Type I
| Hereditary Tyrosinemia, Type I Medical Condition |
|---|
What's The Definition Of The Medical Condition Hereditary 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
- Quinacrine Dihyrochloride, (R)-Isomer ‐ An acridine derivative formerly widely used as an antimalarial…
- Argyll-Robertson Pupil, Non-Syphilitic ‐ Conditions which affect the structure or function of the pupil…
- Radiation Injuries, Experimental ‐ Harmful effects of exposure to ionizing or non-ionizing radiation…
- Foot, Madura ‐ A disease caused by various fungi (Madurella mycetomi) or actinomycetes…
- Neoplasms, Breast ‐ Tumors or cancer of…
- Imprinting, Genetic ‐ The variable phenotypic expression of a gene depending on whether…
- Cell, Jurkat ‐ A cell line derived from human T-cell leukemia and used to determine…
- Products, Meat ‐ Articles of food which are derived by a process of manufacture…
- Acetylcysteine, (DL)-Isomer ‐ The N-acetyl derivative of CYSTEINE. It is used as a mucolytic…
- Crural Pareses ‐ A general term referring to a mild to moderate degree of muscular…