Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

Seker Yilmaz, Berna; Baruteau, Julien; Chakrapani, Anupam; Champion, Michael; Chronopoulou, Efstathia; Claridge, Lee C.; Daly, Anne; Davies, Catherine; Davison, James; Dhawan, Anil; Grunewald, Stephanie; Gupte, Girish L.; Heaton, Nigel; Lemonde, Hugh; McKiernan, Pat; Mills, Philippa; Morris, Andrew A.M.; Mundy, Helen; Pierre, Germaine; Rajwal, Sanjay; Sivananthan, Siyamini; Sreekantam, Srividya; Stepien, Karolina M.; Vara, Roshni; Yeo, Mildrid; Gissen, Paul

doi:10.1016/j.ymgmr.2023.101020

Molecular Genetics and Metabolism Reports

2023

DOI: 10.1016/j.ymgmr.2023.101020

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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

Berna Seker Yilmaz,

Julien Baruteau,

Anupam Chakrapani

et al.

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2024

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“…And as we are turning into a rare disease therapeutics era that not only involves organ transplantation for IEMs, but also mRNA and gene therapy, knowing the most relevant details of these conditions will become paramount for their care ( 15 - 18 ).…”

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confidence: 99%

Hyperammonemia and inborn errors of metabolism

Corado

2024

Transl Pediatr

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confidence: 99%

Hyperammonemia and inborn errors of metabolism

Corado

2024

Transl Pediatr

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Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience

Patterson,

Gold,

et al. 2024

J of Inher Metab Disea

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This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1‐year, and 3‐years post‐LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021. Standardized motor and cognitive assessment scores were collected from children who had ≥1 motor/cognitive assessment at any timepoint. Pre‐LT brain magnetic resonance imaging (MRI) was graded. Associations between demographic/medical variables and neurodevelopmental outcomes were explored. Twenty‐six children (64% male) underwent LT at a median age of 1.4 (interquartile range 0.71, 3.84) years. Fifteen (58%) had a UCD diagnosis, 14 (54%) required dialysis for hyperammonemia, and 10 (42%) had seizures typically around diagnosis. The proportion of children with gross motor scores >1 standard deviation (SD) below the mean increased across timepoints, and ≥50% demonstrated general intellect scores >2 SD below the mean at each timepoint. The following significant associations were noted: UCD diagnoses with lower general intellect scores (p = 0.019); arginosuccinate lyase deficiency diagnosis with lower visual motor scores at 3‐years post‐LT (p = 0.035); a history of seizures pre‐LT with lower general intellect (>2SD below the mean) at 3‐years post‐LT (p = 0.020); dialysis pre‐LT with lower motor scores (>1 SD below the mean) at 1‐year post‐LT (p = 0.039); pre‐emptive LT with higher general intellect scores at 3‐years post‐LT (p = 0.001). MRI gradings were not associated with developmental scores. In our single centre study, children with UCD or OA had a higher prevalence of developmental impairment post‐LT compared to population norms. Earlier screening, pre‐emptive transplant, and rehabilitation may optimize long‐term outcomes.

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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

Cited by 2 publications

References 52 publications

Hyperammonemia and inborn errors of metabolism

Hyperammonemia and inborn errors of metabolism

Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience

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