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tyrozinémie

Heslo	tyrozinémie
Heslo anglicky	Tyrosinemias
Odkazy	choroba z deficitu fumarylacetoacetázy choroba z deficitu tyrozíntransaminázy choroba z deficitu 4-hydroxyfenylpyruvátdioxygenázy
Angl. X odkazy	4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease Fumarylacetoacetase Deficiency Disease Tyrosine Transaminase Deficiency Disease
Vysvetľujúca pozn. v angl.	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)
Odkazy	(10) - ČLÁNKY
	(1) - heslo MeSH
	(2) - CiBaMed

predmetové heslo

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