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
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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)
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