Tyrosinemia
MONDO:0004741An 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.
6 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Inborn disorder of amino acid metabolism
(4)
Disease of genetic or genomic mechanism
(2)
Amino acid metabolism disease
(1)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)