Diagnosis: Hereditary Type I Tyrosinema (hepatorenal tyrosinemia)

Holme E , Lindstedt S . Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr. 1995;7:726-732.

Mitchell G , Lambert M , Tanguay R . Hypertyrosinemia. In: Scriver C , Beaudet A , Sly W , Valle D , eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York; McGraw-Hill, 1995.

Dieter M , Freshwater S , Miller M , et al. Pharmacological rescue of the 14CoS/14CoS mouse: hepatocyte apoptosis is likely caused by endogenous oxidative stress. Free Radic Biol Med. 2003;15:351-367.

Grompe M . The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liv Dis. 2001;21:563-571.

Schwarzenberg S , Sharp H . Pediatric gastroenterology: update on metabolic liver disease. Pediatr Clin North Am. 1996;43:27-56.

Croffie J , Gupta S , Chong S , Fitzgerald J . Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure. Pediatrics. 1999;103:675-678.

Schwetz B . From the food and drug administration: drug for pediatric liver disease. JAMA. 2002;287:1103.

Crone J , Moslinger D , Bodamer O , et al. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr. 2003;92:625-628.

Gissen P , Preece M , Willshaw H , McKiernan P . Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC. J Inherit Metab Dis. 2003;26:13-16.

Luijerink M , Jacobs S , van Beurden A , et al. Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC). J Hepatol. 2003;39:901-909.

Grompe M . Therapeutic liver repopulation for the treatment of metabolic liver disease. Hum Cell. 1999;12:171-180.