hydrolase 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
The accumulation of the toxic metabolites succinylacetone and fumarylacetoacetate
in the liver and kidneys leads to death if not treated.
hydrolase (FAH) deficiency or tyrosinemia type 1 (TT1) is an inherited metabolic disease that can cause neurologic crisis and respiratory distress.
It is also known as tyrosinemia type 1, hereditary tyrosinemia, congenital tyrosinosis, and fumarylacetoacetate
hydrolase (FAH) deficiency (FAHD), and is assigned OMIM 276700.
The toxicological significance of inhibition of MAAI is highlighted by the consequences of loss of function mutations in fumarylacetoacetate
(FAA) hydrolase, the terminal enzyme of phenylalanine and tyrosine catabolism.
Fernandez-Canon and Penalva (1998) have reported the Zeta GSTs in Aspergillus nidulans and humans are identical to an enzyme maleylacetoacetate isomerase (MAAI), which catalyzes the glutathione-dependent cis--trans isomerization of maleylacetoacetate to fumarylacetoacetate
in the catabolic pathway of tyrosine/phenylalanine.
Tyrosinemia is a genetic inborn error of metabolism, involving the amino acid tyrosine and is associated with a lack of the enzyme Fumarylacetoacetate
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.
Hereditary tyrosinaemia type I (HT-I) (OMIM 276700) is a rare autosomal recessive disease caused by deficiency of fumarylacetoacetate
hydrolase (FAH), which is the last enzyme in tyrosine catabolic pathway.