FaCD Online Syndrome Fact Sheet

Last updated: 05 Aug 2008

Name: Tyrosinemia, type 1

Synonym: Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1

Mode of Inheritance: AR

Genes

FAH, mapped to 15q23-q25

Tumor features

hepatocellular cancer (hepatoma)

Non-tumor features

liver cirrhosis
liver failure
nephropathy
pancreas, islet cell hyperplasia of the

Comment

This disorder may present with either acute progressive liver failure in infancy or slowly progressive liver disease with the development of cirrhosis. Renal tubular nephropathy and pancreatic islet cell hyperplasia are other features.[1].

Approximately 40 % of patients surviving beyond two years of age develop hepatocellular carcinoma[2]. A lower percentage of 17 % was reported by van Spronsen et al.[3], but these authors note that some patients might have developed this cancer if liver transplantation had not been performed. NTBC treatment has improved the vital prognosis and quality of life of tyrosinaemia type I patients but does not prevent the development of liver cancer in all cases[4,5].

References

[1] Holme E, Lindstedt S. Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 1995; 7(6):726-732.
[2] Weinberg AG, Mize CE, Worthen HG. The occurrence of hepatoma in the chronic form of hereditary tyrosinemia. J Pediat 1976; 88(3):434-438.
[3] Van Spronsen FJ, Thomasse Y, Smit GPA, Leonard JV, Clayton PT, Fidler V, Berger R, Heymans HSA. Hereditary tyrosinemia type 1: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20[5], 1187-1191. 1994.
[4] Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, de Baulny HO, Touati G. NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. Journal of inherited metabolic disease 2008; 31(1):81-7.
[5] van Spronsen FJ, Bijleveld CM, van Maldegem BT, Wijburg FA. Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment. Journal of pediatric gastroenterology and nutrition 2005; 40(1):90-3.