Number of the records: 1
tyrozinémie
Record number d020176 Date 06.06.2025 Type M Topical term tyrozinémie Other term English (Pseudonym) 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
English (Pseudonym) Fumarylacetoacetase Deficiency Disease
English (Pseudonym) Tyrosine Transaminase Deficiency Disease
Slovak (Pseudonym) choroba z deficitu fumarylacetoacetázy
Slovak (Pseudonym) choroba z deficitu tyrozíntransaminázy
Slovak (Pseudonym) choroba z deficitu 4-hydroxyfenylpyruvátdioxygenázy
See also (Later heading) tyrozíntransamináza
UDC C10.228.140.163.100.875C16.320.565.100.880C16.320.565.189.875C18.452.132.100.875C18.452.648.100.880C18.452.648.189.875 Note 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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Number of the records: 1