Defective enzyme | Tyrosine aminotransferase | 4-hydroxyphenylpyruvate dioxygenase | Homogentisate dioxygenase | Maleylacetoacetate isomerase | Fumarylacetoacetate hydrolase |
Disease name(s) | Tyrosinemia type II Oculocutaneous tyrosinemia Richner-Hanhardt syndrome | Tyrosinemia type III | Alkaptonuria | No human patients described | Tyrosinemia type I Hepatorenal tyrosinemia |
Elevated blood tyrosine | +++ | ++ | ∅ | ? | ++ |
Corneal ulcers | +++ | +/– | ∅ | ? | ∅ |
Hyperkeratosis | ++ | +/– | ∅ | ? | ∅ |
Intellectual disability | +/– | +/– | ∅ | ? | ∅ |
Arthritis | ∅ | ∅ | +++ | ? | ∅ |
Liver failure | ∅ | ∅ | ∅ | ? | +++ |
Renal Fanconi syndrome | ∅ | ∅ | ∅ | ? | ++ |
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