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skos:definition |
CSP: group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency.,MSH: 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),NCI: An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of ty
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