tyrosinemia

Genetics

autosomal recessive

Laboratory

• elevated blood tyrosine
• enhanced urine tyrosine & tyrosine metabolites

More general terms

• amino acid inborn error of metabolism

More specific terms

• tyrosinemia type 1
• tyrosinemia type 2 (Richner-Hanhart syndrome)
• tyrosinemia type 3

Database

• OMIM: https://mirror.omim.org/entry/276600
• OMIM: https://mirror.omim.org/entry/276700