About The Medical Condition Hereditary Tyrosinemia, Type II
Find the definition of the medical term Hereditary Tyrosinemia, Type II. Hereditary Tyrosinemia, Type II defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Hereditary Tyrosinemia, Type II
| Hereditary Tyrosinemia, Type II Medical Condition |
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What's The Definition Of The Medical Condition Hereditary Tyrosinemia, Type II?
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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