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Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant
Author(s) -
Sivananthan Siyamini,
Hadžić Nedim,
Dhawan Anil,
Heaton Nigel D.,
Vara Roshni
Publication year - 2021
Publication title -
american journal of transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.89
H-Index - 188
eISSN - 1600-6143
pISSN - 1600-6135
DOI - 10.1111/ajt.16400
Subject(s) - medicine , propionic acidemia , liver transplantation , transplantation , hepatology , decompensation , stroke (engine) , inborn error of metabolism , newborn screening , intensive care medicine , pediatrics , liver disease , mechanical engineering , engineering
Abstract Propionic acidemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of propionyl CoA carboxylase which often manifests with frequent metabolic decompensations and risk of neurological injury. Outcomes with medical therapy remain suboptimal. Liver transplantation has been shown to be a therapeutic option for patients and results in a milder phenotype of the disease and partial correction of the enzyme defect. Liver transplantation has been increasingly reported over the last decade and experience in managing these patients is improving. Long‐term outcomes are generally good; however, the risk of complications still exists despite transplantation. We report a child who presented with a fatal metabolic stroke 11 years post liver transplant without any biochemical evidence of decompensation. We highlight the need to closely monitor these patients lifelong despite liver transplantation and maintain multidisciplinary working between hepatology and metabolic clinicians.