Tyrosinemia Type 1: An Overview of Nursing Care

Elizabeth Barnby, DNP, ACNP-BC, RN


Pediatr Nurs. 2014;40(2):61-66. 

In This Article

Liver Transplant

Decreased hepatocellular apoptosis in the presence of toxic metabolites in the liver increase the risk for hepatocellular carcinoma (HCC) in children with TT1. Consultation with a pediatric hepatologist and yearly ultrasounds, CT scans with contrast, or gadolinium-enhanced MRI can detect hepatic nodules early (Lauenstein et al., 2007). Alpha-fetoprotein (AFP) levels should be followed as well. Elevations of AFP may indicate HCC. Early referral for liver transplant before nodules are greater than 2 cm can be life-saving (Koelink et al., 2006).

Unfortunately, even with early nitisinone treatment, some children develop HCC and require liver transplant. After liver transplant, the new liver allograft provides FAH enzyme to metabolize dietary tyrosine. Post-transplant, the low-protein diet is unnecessary. The liver transplant team and pediatric hepatologists manage maintenance of immunosuppression. Liver transplant is considered life-saving, but it is not a cure for TT1. The risk of rejection, infection, and malignancy after liver transplant is significant (Arnon et al., 2011; Heffron et al., 2010).

Liver transplant decreases the tyrosine load, but it does not abolish renal exposure to the fumarylacetoacetate (FAA). Low-dose nitisinone can be used after liver transplant if succinylacetone is found in the urine. It is thought that low-dose nitisinone may slow nephropathy and decrease the risk of renal carcinoma from exposure to FAA and succinylacetone in the kidneys. The kidneys also metabolize tyrosine and may require transplant if end stage renal disease develops (Jacobs et al., 2006).