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 |
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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)
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