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...
30 KB (3,369 words) - 09:15, 17 November 2023
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...
7 KB (685 words) - 01:50, 27 February 2022
observed liver enzyme activity in FAH deficiency during hereditary tyrosinemia type 1. In humans, this enzyme is mainly expressed in the liver. FAH is...
21 KB (2,536 words) - 15:28, 8 July 2024
genetically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose...
12 KB (1,203 words) - 05:48, 21 January 2024
lead poisoning and succinylacetone, whose levels are increased in tyrosinemia type I, inhibit ALAD. Therefore, these conditions should also be considered...
11 KB (1,149 words) - 23:17, 20 August 2023
phenylketonuria tyrosinemia maple syrup urine disease glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects Carbamoyl phosphate synthetase I deficiency...
15 KB (1,517 words) - 07:36, 14 July 2024
dehydratase deficiency or in patients with symptoms due to hereditary tyrosinemia type I. In cases of mercury- or arsenic poisoning-induced porphyria, other...
64 KB (6,616 words) - 17:46, 24 June 2024
in a child with Henoch–Schönlein purpura, or succinylacetone for Tyrosinemia Type I.[citation needed] As opposed to symptoms (reported subjectively by...
9 KB (736 words) - 22:08, 9 April 2024
cutanea tarda, hereditary coproporphyria, variegate porphyria) and tyrosinemia type I are risk factors for hepatocellular carcinoma. The diagnosis of an...
90 KB (10,115 words) - 23:42, 7 July 2024
of hepatotropic viruses, hemochromatosis and alcoholic cirrhosis. Tyrosinemia Type I, an inherited disorder in tyrosine metabolism impacting the second...
123 KB (13,421 words) - 12:50, 9 July 2024