Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with...

catabolic pathway, and are inherited in an autosomal-recessive pattern. Type I tyrosinemia results from a mutation in the FAH gene, which encodes the enzyme...

observed liver enzyme activity in FAH deficiency during hereditary tyrosinemia type 1. In humans, this enzyme is mainly expressed in the liver. FAH is...

genetically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose...

phenylketonuria tyrosinemia maple syrup urine disease glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects Carbamoyl phosphate synthetase I deficiency...

lead poisoning and succinylacetone, whose levels are increased in tyrosinemia type I, inhibit ALAD. Therefore, these conditions should also be considered...

dehydratase deficiency or in patients with symptoms due to hereditary tyrosinemia type I. In cases of mercury- or arsenic poisoning-induced porphyria, other...

in a child with Henoch–Schönlein purpura, or succinylacetone for Tyrosinemia Type I.[citation needed] As opposed to symptoms (reported subjectively by...

cutanea tarda, hereditary coproporphyria, variegate porphyria) and tyrosinemia type I are risk factors for hepatocellular carcinoma. The diagnosis of an...

Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I". Advanced Materials. 30 (52): 1805308. Bibcode:2018AdM....3005308C...