Hereditary tyrosinemia Type I (HTI, OMIM 276700) is a rare inborn error of tyrosine metabolism due to deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), the last enzyme in the tyrosine catabolic pathway (1) (Figure 1).
Geographical and ethnic distribution of mutations of the fumarylacetoacetate hydrolase gene in hereditary tyrosinemia type 1.
gene mutation testing was performed to rule out tyrosinaemia type I and yielded a normal result.
Type 1 hereditary tyrosinaemia is caused by a deficiency of fumarylacetoacetate hydrolase
, the enzyme responsible for the hydrolysis of fumarylacetoacetase.
Social behavior and cognitive deficits have recently been observed in individuals with the rare disorder tyrosinemia type I, which is caused by an autosomal recessive fumarylacetoacetate hydrolase
This patient has tyrosinemia type I (TYR1) caused by deficiency of fumarylacetoacetate hydrolase
[EC.18.104.22.168], which catalyzes the hydrolysis of fumarylacetoacetate at the final step of tyrosine metabolism.
(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.
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.
Tyrosinemia type I (TYR 1;  OMIM 276700) is caused by autosomal recessive fumarylacetoacetate hydrolase
(EC 22.214.171.124) deficiency, which causes development of severe liver disease in infancy, hypophosphatemic rickets, and neurologic crises.