Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.
Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.
Am J Transplant. 2021 Apr;21(4):1637-1640. doi: 10.1111/ajt.16400. Epub 2020 Dec 27.
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.
丙酸血症是一种罕见的常染色体隐性遗传代谢缺陷病，由丙酰辅酶 A 羧化酶缺乏引起，常表现为频繁的代谢失代偿和神经损伤风险。尽管采用了药物治疗，但效果仍不理想。肝移植已被证明是一种治疗选择，可使患者的疾病表型更温和，并部分纠正酶缺陷。在过去十年中，肝移植的应用报道越来越多，对这些患者的治疗经验也在不断提高。长期预后一般良好，但即使进行了移植，仍存在并发症风险。我们报告了一例患儿在肝移植后 11 年发生致命性代谢性脑卒中，且没有任何生化代偿失调的证据。我们强调，即使进行了肝移植，也需要对这些患者进行终身密切监测，并保持肝脏病学和代谢临床医生之间的多学科合作。
