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
- ATPases, Bacterial Proton-Translocating ‐ Membrane-bound proton-translocating ATPases that serve two important…
- Hyperkalemia ‐ Abnormally high potassium concentration in the blood, most often…
- Enhancer Elements (Genetics) ‐ Cis-acting DNA sequences which can increase transcription of…
- Syndrome, Myofascial Pain ‐ Muscular pain in numerous body regions that can be reproduced…
- IgG ‐ The major immunoglobulin in normal…
- Nafcillin, Monosodium Salt, Anhydrous ‐ A semi-synthetic antibiotic related to…
- Disorders, Adjustment ‐ Maladaptive reactions to identifiable psychosocial stressors…
- Software Validations ‐ The act of testing the software for compliance with a…
- Luteoma ‐ A benign ovarian tumor of granulosa or theca-lutein cell origin,…
- Test, Carcinogen ‐ Tests to experimentally measure the tumor-producing/cancer cell-producing…