Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

摘要: Tyrosinaemia type 1 (HT1) is a rare disorder leading to accumulation of toxic metabolites such as succinylacetone (SA) and high risk hepatocellular carcinoma. Children with HT1 traditionally required liver transplantation (OLT) while the need for this has been reduced by introduction nitisinone some still require OLT. SA inhibits enzyme porphobilinogen (PBG) synthase its activity can be used marker active SA. Elevated urinary post OLT reported previously. This study describes novel finding elevated plasma following HT1. A retrospective analysis was performed patients treated at our institution from 1989-2010. Thirteen had an In who received prior OLT, mean were treatment but normalised time (p ≤ 0.01). Mean PBG increased 0.032 0.99 nkat/gHb (ref range 0.58-1.25) (p < 0.01). in not also OLT; levels available group. Following all duration follow-up associated low-normal activity. Urinary are Low-normal suggests may active. The clinical significance unclear.