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Current management options for tyrosinemia

Authors El-Shabrawi M, Kamal NM

Received 4 December 2012

Accepted for publication 4 January 2013

Published 1 March 2013 Volume 2013:3 Pages 1—9


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Mortada Hassan El-Shabrawi, Naglaa Mohamed Kamal

Pediatric Hepatology, Faculty of Medicine, Cairo University, Cairo, Egypt

Abstract: Hypertyrosinemia is observed in three inherited disorders of tyrosine metabolism. Hereditary Tyrosinemia Type I (HTT-I), or hepatorenal tyrosinemia, is an autosomal recessive disorder caused by mutation in the fumarylacetoacetate hydrolase (FAH) gene. HTT-I is associated with severe involvement of the liver, kidneys, and central nervous system, and is due to toxic accumulation of metabolites of tyrosine, such as succinylacetone. HTT-I is the inborn error with the highest incidence of progression to hepatocellular carcinoma. Elevated succinylacetone, in dried filter paper blood samples, or in plasma or urine, is pathognomonic and diagnostic for HTT-I and is the most reliable neonatal screening method. Liver transplantation is the definitive management, but the need for this is markedly decreased by the combined dietary and drug management. A diet low in tyrosine and phenylalanine, plus nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione) (NCTB) are considered the gold standard management options. Carnitine and 1,25-OH-vitamin D are adjuvant therapy. Strict follow up with succinylacetone level for monitoring of treatment should be done. Abdominal ultrasonography and abdominal computerized tomography scan or magnetic resonance imaging should also be done for surveillance of the possible development of hepatocellular carcinoma.

Keywords: tyrosinemia, management, NTBC, hepatocellular carcinoma

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