Increased need for L-cysteine in hereditary tyrosinemia

Goldenhar syndrome and hereditary tyrosinemia type 1.

We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cy...

Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma.

Hereditary Tyrosinemia Type I, Presentation in a Two Month Old

Tyrosinemia is a metabolic disorder which manifests as increased levels of tyrosine in the blood. Hereditary Tyrosinemia Type I is one of the many causes of Tyrosinemia. It is due to the deficiency of the enzyme fumaryl acetoacetate hydrolase which leads to the rise in the serum levels of fumaryl acetoacetate and presents with a variety of different signs and symptoms such as neurological disor...

Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts

Succinylacetone (SA) (4,6-dioxoheptanoic acid) is an abnormal metabolite produced in patients with hereditary tyrosinemia as a consequence of an inherited deficiency of fumaryl acetoacetate hydrolase activity. Patients with this disease are associated with a number of abnormalities, including aminoaciduria, proteinuria, liver failure, commonly hepatoma, and decreased GSH concentration in the li...

Liver transplantation for hereditary tyrosinemia in the presence of hepatocellular carcinoma.

H· EREDITARY TYROSINEMIA is a metabolic disorder characterized by deficiency of the enzyme fummarylacetoacetate, resulting in the accumulation of tyrosine metabolites, which are toxic to the liver. Hepatic dysfunction, associated with tyrosinemia, varies from an acute form of liver failure to a chronic, progressive form that leads to cirrhosis and hepatocellular carcinoma (HCC).1.2 Liver transp...