disease has basis in disruption of
disease caused by disruption of
tyrosine catabolic process
inborn disorder of amino acid metabolism
tyrosinemia
NCIT:C98640
DOID:9275
MESH:D020176
SCTID:190694001
ICD10CM:E70.21
MONDO:0004741
OMIMPS:276700
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:C0268483
disorder of tyrosine metabolism