tyrosinemia
MONDO:0004741Mondo
Findings
No curated finding names tyrosinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0004741), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of