Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital

Abstract

Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience with LT in IEMs. Our objective is to assess the outcomes of IEM patients who have undergone LT, which we hypothesize to be generally successful for prevention of metabolic decompensation. A retrospective chart review was performed on patients with urea cycle defects, organic acidemias, and amino acidopathies who underwent LT at the Children's Hospital of Philadelphia. Thirty‐five patients with the following conditions have undergone LT: tyrosinemia (8), methylmalonic acidemia (7), maple syrup urine disease (6), citrullinemia (6), ornithine transcarbamylase deficiency (4), propionic acidemia (2), and argininosuccinate lyase deficiency (2). Average age at transplantation was 3.6 years. Three patients are now deceased. One patient suffered a metabolic stroke posttransplant. No episodes of metabolic decompensation have been noted. Thirty‐five patients received LT with generally favorable outcome. None sustained metabolic decompensation posttransplant. As has been reported previously, LT does not ameliorate pre‐existing developmental differences or risk to other organ systems. Further research is needed to aid in standardization of care and follow‐up, as most patients no longer follow with a geneticist.

Advancements in therapeutics for inborn errors of metabolism

“…Despite the advances in newborn screening and diagnostic methods, IEM still pose a significant risk in terms of morbidity, mortality and quality of life [2,3,4 ]. Similarly, while liver transplant can provide a 'cure' for some disorders, this procedure nonetheless poses its own risks for postsurgical complications, and transplant does not correct or reverse previous neurologic insults [6][7][8][9]. In addition, variations in access to organs may be observed based on location, socioeconomic factors and even race [10 & ].…”

“…Patients with IEM amenable to control with dietary modifications for instance, still experience lower psychosocial health and emotional functioning with higher levels of both parent and child anxiety [3,5 ▪ ]. Similarly, while liver transplant can provide a ‘cure’ for some disorders, this procedure nonetheless poses its own risks for postsurgical complications, and transplant does not correct or reverse previous neurologic insults [6–9]. In addition, variations in access to organs may be observed based on location, socioeconomic factors and even race [10 ▪ ].…”