tyrosinemias meaning

  "tyrosinemias" in a sentence
[Medicine]
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 mental retardation,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 mental retardation 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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  1. Tyrosinemia is the most common metabolic disease associated with tyrosine aminotransferase.
  2. The drug, named Orfadin, amazingly is a failed weed killer that Swedish scientists discovered could fight a disease called hereditary tyrosinemia.
  3. Hereditary tyrosinemia type 1, or HT-1, is a genetic metabolic disorder that causes progressive liver failure and liver cancer in young children.
  4. In Type I tyrosinemia, a different enzyme, fumarylacetoacetate hydrolase is mutated and doesn't work, leading to very harmful products building up in the body.
  5. Tyrosinemia type II ( Richner-Hanhart syndrome, RHS ) is a disease of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels.

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