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tyrozinémie

Subject h.	tyrozinémie
Subject h.	Tyrosinemias
Entry terms	choroba z deficitu fumarylacetoacetázy choroba z deficitu tyrozíntransaminázy choroba z deficitu 4-hydroxyfenylpyruvátdioxygenázy
English X references	4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease Fumarylacetoacetase Deficiency Disease Tyrosine Transaminase Deficiency Disease
Scope note in English	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 INTELLECTUAL DISABILITY, 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 INTELLECTUAL DISABILITY 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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