About The Medical Condition Fumarylacetoacetase Deficiency Disease
Find the definition of the medical term Fumarylacetoacetase Deficiency Disease. Fumarylacetoacetase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Fumarylacetoacetase Deficiency Disease
| Fumarylacetoacetase Deficiency Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Fumarylacetoacetase Deficiency Disease?
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
- Spasms, Masseter ‐ Spasmodic contraction of the masseter muscle resulting in forceful…
- Cellulysin ‐ An enzyme isolated from fungi and bacteria. It catalyzes the…
- Surgical Hemorrhages ‐ Loss of blood during a surgical…
- Abortion, Missed ‐ The retention in the uterus of a dead fetus two months or more…
- Neurologic Disorder ‐ Diseases of the central and peripheral nervous system. This includes…
- Fungal Pachymeningitides ‐ Meningitis caused by fungal agents which may occur as OPPORTUNISTIC…
- Ro 070582 ‐ A nitroimidazole that sensitizes normally radio-resistant hypoxic…
- Times, Thrombin ‐ Test of the conversion of fibrinogen to fibrin by thrombin in…
- Receptor, CSF-1 ‐ A receptor for MACROPHAGE COLONY-STIMULATING FACTOR encoded by…
- Plumbism, Neurologic, Adult ‐ Neurologic conditions in adults associated with acute or chronic…