About The Medical Condition Tyrosinemias, Type I
Find the definition of the medical term Tyrosinemias, Type I. Tyrosinemias, Type I defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Tyrosinemias, Type I
| Tyrosinemias, Type I Medical Condition |
|---|
What's The Definition Of The Medical Condition Tyrosinemias, 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
- ATRC2 Transporter ‐ A high-affinity, low capacity system y+ amino acid transporter…
- Serology ‐ The study of serum, especially of antigen-antibody reactions…
- Sexual Unions, Visiting ‐ Sexual activities…
- Hydroxyanisole, Butylated ‐ Mixture of 2- and 3-tert-butyl-4-methoxyphenols that is used…
- Status Epilepticus, Complex Partial ‐ A prolonged seizure or seizures repeated frequently enough to…
- Electroconvulsive Shock ‐ Induction of a stress reaction in experimental subjects by means…
- Moving, Health Facility ‐ The relocation of health care institutions or units thereof.…
- Sleep Walking ‐ A parasomnia characterized by a partial arousal that occurs during…
- Shiner ‐ A family of freshwater fish comprising the minnows…
- Ganglionic Blocking Agents ‐ Agents having as their major action the interruption of neural…