About The Medical Condition Diseases, Fumarylacetoacetase Deficiency
Find the definition of the medical term Diseases, Fumarylacetoacetase Deficiency. Diseases, Fumarylacetoacetase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Diseases, Fumarylacetoacetase Deficiency
| Diseases, Fumarylacetoacetase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Diseases, Fumarylacetoacetase Deficiency?
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
- Fats, Artificial ‐ Compounds used in food or in food preparation to replace dietary…
- Pupil, Neuropathic Tonic ‐ A pupillary abnormality characterized by a poor pupillary light…
- Feline Coronavirus ‐ A species of CORONAVIRUS infecting cats of all ages and commonly…
- Antigens, CD18 ‐ Cell-surface glycoprotein beta-chains that are non-covalently…
- Pseudoneurotic Schizophrenias ‐ A personality disorder in which there are oddities of thought…
- Infratentorial Neoplasms ‐ Intracranial tumors originating in the region of the brain inferior…
- Dressing, Amniotic Membrane ‐ Human or animal tissue used as temporary wound…
- Pellets, Drug ‐ Small containers or pellets of a solid drug implanted in the…
- Workmans Compensation ‐ Insurance coverage providing compensation and medical benefits…
- Dichloromethyl Ether ‐ A substance that is an irritant to the eyes and respiratory tract…