Definition: 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)
note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic
Other names Tyrosinemias, Type III; Tyrosinemias, Type II; Tyrosinemias, Type I; Tyrosinemias, Hepatorenal; Tyrosinemia, Hereditary; Tyrosinemia, Hepatorenal; Tyrosinemia Type 1s; Tyrosinemia; Type III Tyrosinemias; Type III Tyrosinemia; Type II Tyrosinemias; Type II Tyrosinemia; Type I Tyrosinemias; Type I Tyrosinemia; Type I Hypertyrosinemias; Type I Hypertyrosinemia; Hypertyrosinemias, Type I; Hereditary Tyrosinemias; Hereditary Tyrosinemia; Hepatorenal Tyrosinemias
