About The Word Deficiency Diseases, Fumarylacetoacetase
Find the definition of the medical term Deficiency Diseases, Fumarylacetoacetase. Deficiency Diseases, Fumarylacetoacetase defined and explained for easy understanding at the Medical Dictionary from ClusterMed.info.
Deficiency Diseases, Fumarylacetoacetase
| Deficiency Diseases, Fumarylacetoacetase Definition And Meaning |
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What's The Definition Of Medical Term Deficiency Diseases, Fumarylacetoacetase?
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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