Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Nutrients. 2020 Sep 29;12(10):2976. doi: 10.3390/nu12102976.
Methylmalonic acidemia (MMA) is caused by a deficiency of methyl-malonyl-CoA mutase. It is a multisystemic condition with poor clinical outcomes characterized by frequent metabolic decompensation with acidosis, hyperammonemia and encephalopathy. Restriction of intact protein and supplementation with amino acid-based formula play an important role in its management. Recently, liver transplant (LT) became a treatment option for MMA patients. However, there has been no current consensus on the post-operative nutrition management for MMA patients undergoing transplant, particularly during the initial phase of recovery period with catabolic stressors. We performed a retrospective analysis of clinical and nutritional management as well as biochemical profiles before and after LT in five patients with MMA. Through this study, we observed significant improvement of MMA-associated metabolites after LT. MMA patients were able to tolerate increased intact protein intake post-operatively. At least 1-1.5 g/kg/day of total protein during the acute phase after transplant may be tolerated without worsening of the metabolite levels. This information provides a guide in how to nutritionally manage MMA after LT.
甲基丙二酸血症(MMA)是由甲基丙二酰辅酶 A 变位酶缺乏引起的。它是一种多系统疾病,临床结局较差,特征为频繁发生代谢失代偿,伴有酸中毒、高血氨和脑病。限制完整蛋白并补充基于氨基酸的配方在其治疗中发挥重要作用。最近,肝移植(LT)已成为 MMA 患者的治疗选择。然而,对于接受移植的 MMA 患者,特别是在伴有分解代谢应激的恢复期初始阶段,尚无术后营养管理的共识。我们对五例 MMA 患者的 LT 前后的临床和营养管理以及生化特征进行了回顾性分析。通过这项研究,我们观察到 MMA 患者在 LT 后 MMA 相关代谢物明显改善。MMA 患者在术后能够耐受增加的完整蛋白摄入。在移植后急性期,至少 1-1.5 g/kg/天的总蛋白可能耐受而不会使代谢物水平恶化。这些信息为 LT 后 MMA 的营养管理提供了指导。