Living‐donor liver transplantation for propionic acidemia

Kasahara, Mureo; Sakamoto, Seisuke; Kanazawa, Hideko; Karaki, Chiaki; Kakiuchi, Toshihiko; Shigeta, Takanobu; Fukuda, Akira; Kosaki, Rika; Nakazawa, Atsuko; Ishige, Mika; Nagao, Masayoshi; Shigematsu, Yosuke; Yorifuji, Tohru; Naiki, Yasuhiro; Horikawa, Reiko

doi:10.1111/j.1399-3046.2011.01607.x

Cited by 45 publications

(49 citation statements)

References 14 publications

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“…Despite these, when LT is successful, we and others (11,(14)(15)(16) have shown that the quality of life of the surviving patients is transformed. Acute metabolic decompensations are abolished, with a follow-up up to 21 years.…”

Section: Discussionmentioning

confidence: 95%

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

Charbit‐Henrion

Lacaille

McKiernan

et al. 2015

American Journal of Transplantation

100

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Propionic acidemia (PA) is a severe metabolic disorder with cardiac and neurologic complications and a poor quality of life. Liver transplantation (LT) was thus proposed in PA to increase enzyme activity. We studied retrospectively LT in PA in two European centers. Twelve patients underwent 17 LTs between 1991 and 2013. They developed severe, unusual and unexpected complications, with high mortality (58%). When present, the cardiomyopathy resolved and no acute metabolic decompensation occurred allowing dietary relaxation. Renal failure was present in half of the patients before LT and worsened in all of them. We suggest that cardiac and renal functions should be assessed before LT and monitored closely afterward. A renal sparing immunosuppression should be used. We speculate that some complications may be related to accumulated toxicity of the disease and that earlier LT could prevent some of these consequences. As kidney transplantation has been performed successfully in methylmalonic acidemia, a metabolic disease in the same biochemical pathway, the choice of the organ to transplant could be further discussed.

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Section: Discussionmentioning

confidence: 95%

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

Charbit‐Henrion

Lacaille

McKiernan

et al. 2015

American Journal of Transplantation

100

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“…However, experience with LT in PA is still limited. Recent case studies have reported clinical improvement, including significant decrease of episodes of metabolic decompensation, better feeding, and improved neurological development after LT [187,200]. Moreover, LT has been shown to effectively reverse cardiomyopathy [44,201].…”

Section: Methodology and Objectivesmentioning

confidence: 99%

“…Cardiomyopathy [21,23,26,31,39,43,44,71,148,260] and prolonged QTc interval [21,31,38,40,41,56] are emerging as potentially lethal complications in MMA and, more prominently, PA. Additionally there are several reports of heart failure in patients with MMA and PA who did not have cardiomyopathy [187,261,262]. Median age of presentation of cardiomyopathy was 7 years [44].…”

Section: Methodology and Objectivesmentioning

confidence: 99%

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Baumgartner

Hörster

Dionisi‐Vici

et al. 2014

Orphanet J Rare Dis

537

788

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Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100’000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic acidosis and hyperammonemia or later at any age with a more heterogeneous clinical picture, leading to early death or to severe neurological handicap in many survivors. Mental outcome tends to be worse in PA and late complications include chronic kidney disease almost exclusively in MMA and cardiomyopathy mainly in PA. Except for vitamin B12 responsive forms of MMA the outcome remains poor despite the existence of apparently effective therapy with a low protein diet and carnitine. This may be related to under recognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity.These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness. To achieve these goals, the guidelines were developed using the SIGN methodology by having professionals on MMA/PA across twelve European countries and the U.S. gather all the existing evidence, score it according to the SIGN evidence level system and make a series of conclusive statements supported by an associated level of evidence. Although the degree of evidence rarely exceeds level C (evidence from non-analytical studies like case reports and series), the guideline should provide a firm and critical basis to guide practice on both acute and chronic presentations, and to address diagnosis, management, monitoring, outcomes, and psychosocial and ethical issues. Furthermore, these guidelines highlight gaps in knowledge that must be filled by future research. We consider that these guidelines will help to harmonize practice, set common standards and spread good practices, with a positive impact on the outcomes of MMA/PA patients.

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“…The median age at transplant was 3 years with a median follow‐up of 2.5 years (range, 0.01‐21 years). Preexisting cardiomyopathy was reversed in all 10 reported patients . The most common reported complication was HAT occurring in 25% of the grafts.…”

Section: Discussionmentioning

confidence: 87%

“…Since 1992, 49 patients (56 grafts) with PA and LT have been reported (Table ) . The median age at transplant was 3 years with a median follow‐up of 2.5 years (range, 0.01‐21 years).…”

Section: Discussionmentioning

confidence: 99%

Liver Transplantation in Children With Propionic Acidemia: Medium‐Term Outcomes

et al. 2020

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Liver transplantation (LT) for patients with propionic acidemia (PA) is an emerging therapeutic option. We present a retrospective review of patients with PA who underwent LT at a tertiary liver center between 1995 and 2015. A total of 14 children were identified (8 males) with median age at initial presentation of 3 days (range, 0‐77 days). Pretransplant median protein restriction was 1 g/kg/day (range, 0.63‐1.75 g/kg/day), 71% required supportive feeding, and 86% had developmental delay. Frequent metabolic decompensations (MDs) were the main indication for LT with a median age at transplantation of 2.4 years (range, 0.8‐7.1 years). Only 1 graft was from a living donor, and 13 were from deceased donors (4 auxiliary). The 2‐year patient survival was 86%, and overall study and graft survival was 79% and 69%, respectively. Three patients died after LT: at 43 days (biliary peritonitis), 225 days (acute‐on‐chronic rejection with multiorgan failure), and 13.5 years (posttransplant lymphoproliferative disease). Plasma glycine and propionylcarnitine remained elevated but reduced after transplant. Of 11 survivors, 5 had at least 1 episode of acute cellular rejection, 2 sustained a metabolic stroke (with full recovery), and 3 developed mild cardiomyopathy after LT. All have liberalized protein intake, and 9 had no further MDs: median episodes before transplant, 4 (range, 1‐30); and median episodes after transplant, 0 (range, 0‐5). All survivors made some developmental progress after LT, and none worsened at a median follow‐up of 5.8 years (range, 2‐23 years). LT in PA significantly reduces the frequency of MDs, can liberalize protein intake and improve quality of life, and should continue to be considered in selected cases.

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Living‐donor liver transplantation for propionic acidemia

Cited by 45 publications

References 14 publications

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Liver Transplantation in Children With Propionic Acidemia: Medium‐Term Outcomes

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