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

David C Bartlett1, Mary Anne Preece, Elisabeth Holme

  • 1NIHR Biomedical Research Unit and Centre for Liver Research, University of Birmingham, 5th floor IBR, Birmingham B15 2TT, UK. david_bartlett2@hotmail.com

Journal of Inherited Metabolic Disease
|March 30, 2012
PubMed

Insights

Elevated succinylacetone (SA) levels in both urine and plasma are observed after liver transplantation for tyrosinaemia type 1 (HT1). This finding, linked to low porphobilinogen synthase activity, requires further investigation into its clinical significance.

Area of Science:

  • Hepatology
  • Biochemistry
  • Genetics

Background:

  • Hereditary tyrosinaemia type 1 (HT1) is a rare metabolic disorder.
  • HT1 leads to toxic metabolite accumulation, including succinylacetone (SA), and increases hepatocellular carcinoma risk.
  • Liver transplantation (OLT) is a treatment for HT1, though nitisinone has reduced its necessity.

Purpose of the Study:

  • To investigate succinylacetone (SA) levels in plasma and urine following OLT for HT1.
  • To assess the activity of porphobilinogen (PBG) synthase in relation to SA levels post-OLT.

Main Methods:

  • Retrospective analysis of 13 HT1 patients who underwent OLT between 1989-2010.
  • Measurement of urinary and plasma SA levels and PBG synthase activity.
  • Comparison of pre- and post-OLT SA levels, with stratification based on nitisinone treatment.

Main Results:

  • Elevated urinary and plasma SA were detected post-OLT in all patients.
  • Patients treated with nitisinone pre-OLT showed normalized SA levels by OLT, but elevated levels persisted post-OLT.
  • Post-OLT, low-normal PBG synthase activity was observed, correlating with elevated plasma SA.

Conclusions:

  • Plasma and urinary SA levels remain elevated after OLT for HT1.
  • The persistence of SA and low-normal PBG synthase activity suggests potential ongoing SA activity.
  • The clinical implications of elevated post-OLT SA require further study.
Abstract

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