Tyrosinemia

Pronunciation

Definition 1

A rare, inherited disorder marked by high blood levels of a protein building block called tyrosine. This can cause a harmful buildup of tyrosine and other substances in the body’s tissues and organs, especially in the liver, kidney, and nervous system. This can lead to serious medical problems and may increase the risk of liver cancer. Tyrosinemia is caused by mutations (changes) in certain genes that make enzymes needed to break down tyrosine. (NCI Dictionary)

Definition 2

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 tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. (NCI Thesaurus)

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