Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature

Yap, Sufin; Vara, Roshni; Morais, Ana Heloneida de Araújo

doi:10.1007/s12325-020-01305-1

Cited by 37 publications

(55 citation statements)

References 55 publications

(74 reference statements)

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“…Recently a review on the literature on MMA and PA transplanted patients showed 373 transplanted patients and a mortality rate of 11% and 14%, respectively. 13 This gives a first insight of the worldwide (reported) frequency of transplantation within these specific disorders. The aim of this study was to provide an overview of all known transplanted MMA, PA, MSUD, and UCD patients in Europe in order to describe patient characteristics and global outcome (mortality at the time of the evaluationquestionnaire, frequency of peri-/postoperative complications, and whether or not cognitive development and QOL improved after transplantation) after liver and/or kidney transplantation was evaluated structurally.…”

Section: Introductionmentioning

confidence: 91%

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Molema

Martinelli²,

Hörster

et al. 2020

J of Inher Metab Disea

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Background This study provides a general overview on liver and/or kidney transplantation in patients with an amino and organic acid‐related disorder (AOA) with the aim to investigate patient characteristics and global outcome in Europe. This study was an initiative of the E‐IMD and the AOA subnetwork of MetabERN. Methods A questionnaire was sent to all clinically active European Society for the Study of Inborn Errors of Metabolism (SSIEM) members. The questionnaire focused on transplanted individuals with methylmalonic acidemia (MMA), propionic acidemia (PA), maple syrup urine disease (MSUD), and urea‐cycle disorders (UCDs). Results We identified 280 transplanted AOA patients (liver transplantation in 20 MMA, 37 PA, 47 MSUD, and 111 UCD patients, kidney or combined liver and kidney transplantation in 57 MMA patients and undefined transplantation type in 8 MMA patients), followed by 51 metabolic centers. At a median follow‐up of 3.5 years, posttransplant survival ranged between 78% and 100%, being the lowest in PA patients. Overall, the risk of mortality was highest within 14 days posttransplantation. Neurological complications were mainly reported in Mut0 type MMA (n = 8). Nonneurological complications occurred in MMA (n = 28), PA (n = 7), and UCD (n = 14) patients, while it was virtually absent in MSUD patients. Only 116/280 patients were psychologically tested. In all, except MSUD patients, the intelligence quotient (IQ) remained unchanged in the majority (76/94, 81%). Forty‐one percentage (9/22) of MSUD patient showed improved IQ. Conclusion The survival in AOA individuals receiving liver and/or kidney transplantation seems satisfactory. Evidence‐based guidelines, systematic data collection, and improved cooperation between transplantation centers and European Reference Networks are indispensable to improve patient care and outcomes.

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Section: Introductionmentioning

confidence: 91%

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Molema

Martinelli²,

Hörster

et al. 2020

J of Inher Metab Disea

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“…Yap et al recently performed a similar analysis, concluding that transplantation procedures in MMA and PA patients have potential benefits as well as associated risks. 74 We suggest considering the management flowchart for MMA and PA patients undergoing general anaesthesia provided in Figure 4, when performing any transplantation procedure.…”

Section: T a B L E 4 Emergency Regimensmentioning

confidence: 99%

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Forny

Hörster

Ballhausen³

et al. 2021

J of Inher Metab Disea

154

207

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Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re‐evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well‐informed decisions in the context of MMA and PA patient care.

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“…Recently, medical management with dietary protein restriction has been improved; however, the risk of poor neurological outcomes and progressive renal dysfunction can be inevitable particularly for severe MMA cases. During the past decade, an increasing number of MMA patients received liver or combined liver/kidney transplant and favorable biochemical outcomes have been reported [ 8 , 14 , 15 , 16 , 17 ]. Consistent with the previously reported transplanted cases, our patients showed significant improvements in their plasma methylmalonic acid level after LT.…”

Section: Discussionmentioning

confidence: 99%

Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia

et al. 2020

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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.

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Post-transplantation Outcomes in Patients with PA or MMA: A Review of the Literature

Cited by 37 publications

References 55 publications

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia

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