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tyrosinemia type III

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


GARD Rare
Mondo Description Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
Uniprot Description An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.
Disease Ontology Description A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.
Mondo Term and Equivalent IDs
MONDO:0010162:  tyrosinemia type III
GARD:0010332: 
Orphanet:69723: 
SCTID:415764005: 
UMLS:C0268623: