Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

Noha Elserafy; Sue Thompson; Troy Dalkeith; Michael Stormon; Gordon Thomas; Albert Shun; Janine Sawyer; Shanti Balasubramanian; Kaustuv Bhattacharya; Nadia Badawi; Carolyn Ellaway

doi:10.1002/jmd2.12219

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

JIMD Rep. 2021 May 4;60(1):88-95. doi: 10.1002/jmd2.12219. eCollection 2021 Jul.

Authors

Noha Elserafy¹, Sue Thompson^{1

2}, Troy Dalkeith^{1

2}, Michael Stormon^{2

3}, Gordon Thomas^{2

4}, Albert Shun^{2

4}, Janine Sawyer³, Shanti Balasubramanian^{1

2}, Kaustuv Bhattacharya^{1

2}, Nadia Badawi^{2

5}, Carolyn Ellaway^{1

2}

Affiliations

¹ Genetic Metabolic Disorders Service, The Children's Hospital at Westmead Sydney Children's Hospital Network Sydney New South Wales Australia.
² Paediatric divison The University of Sydney Sydney New South Wales Australia.
³ Department of Gastroenterology, The Children's Hospital at Westmead Sydney Children's Hospital Network Sydney New South Wales Australia.
⁴ Department of Paediatric Surgery, The Children's Hospital at Westmead Sydney Children's Hospital Network Sydney New South Wales Australia.
⁵ Grace Centre for Newborn Care, The Children's Hospital at Westmead Sydney Children's Hospital Network Sydney New South Wales Australia.

Abstract

Background: Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs. IEMs are now considered the second most common reason for pediatric LT.

Aim: To review the data of all children with an IEM who had LT at The Children's Hospital at Westmead (CHW), NSW, Australia between January 1986 and January 2019.

Methods: Retrospective data collected from the medical records and genetic files included patient demographics, family history, parental consanguinity, method of diagnosis of IEM, hospital and intensive care unit admissions, age at LT, graft type, clinical outcomes and metabolic management pre and post-LT.

Results: Twenty-four LT were performed for 21 patients. IEM diagnoses were MSUD (n = 4), UCD (n = 8), OA (n = 6), TYR type I (n = 2) and GSD Ia (n = 1). Three patients had repeat transplants due to complications. Median age at transplant was 6.21 years (MSUD), 0.87 years (UCD), 1.64 years (OA) and 2.2 years (TYR I). Two patients died peri-operatively early in the series, one died 3 months after successful LT due to septicemia. Eighteen LTs have been performed since 2008 in comparison to six LT prior to 2008. Dietary management was liberalized post LT for all patients.

Conclusions: Referral for LT for IEMs has increased over the last 33 years, with the most referrals in the last 10 years. Early LT has resulted in improved clinical outcomes and patient survival.

Keywords: clinical outcome; inborn errors of metabolism; liver transplantation; metabolic management pre‐ and post‐liver transplantation; organic acidemia; survival; urea cycle disorder.