OnlineIMD
Tyrosinemia type 1
Synonym(s)
Fumarylacetoacetase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
FAH
/ Fumarylacetoacetate Hydrolase
15q25.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Fumarylacetoacetate hydrolase
Pathway
Phenylalanine and tyrosine metabolism
Disease group(s)
1.4 Disorders of phenylalanine and tyrosine metabolism