tyrosinemia https://www.malacards.org/card/tyrosinemia NCIT:C98640 DOID:9275 MESH:D020176 SCTID:190694001 ICD10CM:E70.21 MONDO:0004741 OMIMPS:276700 MEDGEN:541332 GARD:0024099 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. ICD9:270.2 UMLS:C0268486 disorder of tyrosine metabolism