The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism

Organic acidurias (OAs), urea‐cycle disorders (UCDs), and maple syrup urine disease (MSUD) belong to the category of intoxication‐type inborn errors of metabolism (IT‐IEM). Liver transplantation (LTx) is increasingly utilized in IT‐IEM. However, its impact has been mainly focused on clinical outcome measures and rarely on health‐related quality of life (HRQoL). Aim of the study was to investigate the impact of LTx on HrQoL in IT‐IEMs. This single center prospective study involved 32 patients (15 OA, 11 UCD, 6 MSUD; median age at LTx 3.0 years, range 0.8–26.0). HRQoL was assessed pre/post transplantation by PedsQL‐General Module 4.0 and by MetabQoL 1.0, a specifically designed tool for IT‐IEM. PedsQL highlighted significant post‐LTx improvements in total and physical functioning in both patients' and parents' scores. According to age at transplantation (≤3 vs. >3 years), younger patients showed higher post‐LTx scores on Physical (p = 0.03), Social (p < 0.001), and Total (p =0.007) functioning. MetabQoL confirmed significant post‐LTx changes in Total and Physical functioning in both patients and parents scores (p ≤ 0.009). Differently from PedsQL, MetabQoL Mental (patients p = 0.013, parents p = 0.03) and Social scores (patients p = 0.02, parents p = 0.012) were significantly higher post‐LTx. Significant improvements (p = 0.001–0.04) were also detected both in self‐ and proxy‐reports for almost all MetabQoL subscales. This study shows the importance of assessing the impact of transplantation on HrQoL, a meaningful outcome reflecting patients' wellbeing. LTx is associated with significant improvements of HrQol in both self‐ and parent‐reports. The comparison between PedsQL‐GM and MetabQoL highlighted that MetabQoL demonstrated higher sensitivity in the assessment of disease‐specific domains than the generic PedsQL tool