Tyrosinemia type I (TYR 1;  OMIM 276700) is caused by autosomal recessive fumarylacetoacetate hydrolase
Tyrosinemia is a genetic inborn error of metabolism, involving the amino acid tyrosine and is associated with a lack of the enzyme Fumarylacetoacetate Hydrolase
A single cell had apparently reverted to producing the missing enzyme, fumarylacetoacetate hydrolase
(FAH), and then vigorously proliferated to generate each nodule.
The enzyme is fumarylacetoacetate hydrolase
(FAH) which is markedly reduced in affected patients.
Blas Cerda, director of Clinical Tandem Mass Spectrometry R&D at PerkinElmer, and co-developer of the NeoBase Kit, noted, "Tyrosinemia Type I is caused by a deficiency in the enzyme fumarylacetoacetate hydrolase
, and its incidence is estimated at approximately one in 100,000 to 120,000 newborns.