gene mutation testing was performed to rule out tyrosinaemia type I and yielded a normal result.
This patient has tyrosinemia type I (TYR1) caused by deficiency of fumarylacetoacetate hydrolase
Fumarylacetoacetate hydrolase (FAH) deficiency or tyrosinemia type 1 (TT1) is an inherited metabolic disease that can cause neurologic crisis and respiratory distress.
Normally, the enzyme fumarylacetoacetate hydrolase (FAH) catalyzes tyrosine, but children with TT1 have a deficiency of this essential enzyme.
It is also known as tyrosinemia type 1, hereditary tyrosinemia, congenital tyrosinosis, and fumarylacetoacetate hydrolase (FAH) deficiency (FAHD), and is assigned OMIM 276700.
1990) Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia.
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.
Tyrosinemia type I (TYR 1;  OMIM 276700) is caused by autosomal recessive fumarylacetoacetate hydrolase