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

Molema, Femke; Martinelli, Diego; Hörster, Friederike; Kölker, Stefan; Tangeraas, Trine; Koning, Barbara de; Dionisi‐Vici, Carlo; Williams, Monique

doi:10.1002/jimd.12318

Cited by 42 publications

(54 citation statements)

References 43 publications

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“…The European registry and network for Intoxication type Metabolic Disease (E-IMD) (https:// www.eimd-registry.org/) and the UCD consortium in the USA (https://www.rarediseasesnetwork.org/cms/ucdc) were already established comprising large data sets about patients with UCDs. 5,6,18,20,22,24 In Japan, the members from Japanese Society for Inherited Metabolic Diseases have started establishing the registry system for inherited metabolic disease. We could not investigate the duration of hyperammonemia at the onset time and the severity of hyperammonemic attack other than at the onset time in this study.…”

Section: Discussionmentioning

confidence: 99%

“…Also from other centers, data about the effectiveness of LT in patients with UCDs were reported. [19][20][21][22][23][24] We performed a nation-wide study to investigate the effect of LT in patients with UCDs. Herein, we present the current status of LT in UCDs in our country, and discuss the role of LT on long-term neurodevelopmental outcomes.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan

Kido

Matsumoto

Häberle

et al. 2021

J of Inher Metab Disea

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Urea cycle disorders (UCDs) are inherited metabolic diseases causing hyperammonemia by defects in urea cycle enzymes or transporters. Liver transplantation (LT) currently is the only curative treatment option until novel therapies become available. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to investigate the effect of LT in patients with UCDs in Japan. A total of 231 patients with UCDs were enrolled in this study. Of them, a total of 78 patients with UCDs (30 male and 16 female ornithine transcarbamylase deficiency (OTCD), 21 carbamoyl phosphate synthetase 1 deficiency (CPSD), 10 argininosuccinate synthetase deficiency (ASSD) and 1 arginase 1 deficiency (ARGD)) had undergone LT. Concerning the maximum blood ammonia levels at the onset time in the transplanted male OTCD (N = 28), female OTCD (N = 15), CPSD (N = 21) and ASSD (N = 10), those were median 634 (IQR: 277-1172), 268 (211-352), 806 (535-1382), and 628 (425-957) μmol/L, respectively. The maximum blood ammonia levels in female OTCD were thus significantly lower than in the other UCDs (all P < .01). LT was effective for long-term survival, prevented recurrent hyperammonemia attack, and lowered baseline blood ammonia levels in patients with UCDs. LT had limited effect for ameliorating neurodevelopmental outcome in patients with severe disease because hyperammonemia at the onset time already had a significant impact on the brain.Patients with ASSD may be more likely to survive without cognitive impairment

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan

Kido

Matsumoto

Häberle

et al. 2021

J of Inher Metab Disea

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Section: Discussionmentioning

confidence: 99%

“…Although there is still limited evidence, successful liver transplantation in the setting of close cooperation between transplantation centres and metabolic centres is an alternative treatment option which may potentially improve cognitive performance in MSUD patients. 43 For complex diseases such as MSUD a shared model of care is very valuable in our experience. While this model has not been extensively examined in the context of MSUD, it is utilised in other settings, including Cystic Fibrosis and renal disease.…”

Section: Discussionmentioning

confidence: 99%

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

O’Reilly

Crushell

Hughes

et al. 2020

J of Inher Metab Disea

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Since 1972, 18 patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal‐onset maple syrup urine disease (MSUD) in Ireland. Patients were stratified into three clusters according to clinical outcome at the time of data collection, including developmental, clinical, and IQ data. A fourth cluster comprised of two early childhood deaths; a third patient died as an adult. We present neuroimaging and electroencephalography together with clinical and biochemical data. Incidence of MSUD (1972‐2018) was 1 in 147 975. Overall good clinical outcomes were achieved with 15/18 patients alive and with essentially normal functioning (with only the lowest performing cluster lying beyond a single SD on their full scale intelligence quotient). Molecular genetic analysis revealed genotypes hitherto not reported, including a possible digenic inheritance state for the BCKDHA and DBT genes in one family. Treatment has been based on early implementation of emergency treatment, diet, close monitoring, and even dialysis in the setting of acute metabolic decompensation. A plasma leucine ≥400 μmol/L (outside therapeutic range) was more frequently observed in infancy or during adolescence, possibly due to infections, hormonal changes, or noncompliance. Children require careful management during metabolic decompensations in early childhood, and this represented a key risk period in our cohort. A high level of metabolic control can be achieved through diet with early implementation of a “sick day” regime and, in some cases, dialysis as a rescue therapy. The Irish cohort, despite largely classical phenotypes, achieved good outcomes in the NBS era, underlining the importance of early diagnosis and skilled multidisciplinary team management.

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“…Liver transplantation (LT) has been successfully used in the treatment of different kinds of inborn errors of metabolism (IEMs) (Elserafy et al, 2021; Molema et al, 2021; Oishi et al, 2016). IEMs often result from decreased enzyme activity, a perturbation that transplantation of a metabolically intact liver will ameliorate.…”

Section: Introductionmentioning

confidence: 99%

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital

Pritchard

Izumi

Payan‐Walters

et al. 2022

American J of Med Genetics Pt A

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Liver transplantation (LT) has been used for many years as a therapeutic option for certain inborn errors of metabolism (IEMs). Here we present one institution's 27 years of experience with LT in IEMs. Our objective is to assess the outcomes of IEM patients who have undergone LT, which we hypothesize to be generally successful for prevention of metabolic decompensation. A retrospective chart review was performed on patients with urea cycle defects, organic acidemias, and amino acidopathies who underwent LT at the Children's Hospital of Philadelphia. Thirty‐five patients with the following conditions have undergone LT: tyrosinemia (8), methylmalonic acidemia (7), maple syrup urine disease (6), citrullinemia (6), ornithine transcarbamylase deficiency (4), propionic acidemia (2), and argininosuccinate lyase deficiency (2). Average age at transplantation was 3.6 years. Three patients are now deceased. One patient suffered a metabolic stroke posttransplant. No episodes of metabolic decompensation have been noted. Thirty‐five patients received LT with generally favorable outcome. None sustained metabolic decompensation posttransplant. As has been reported previously, LT does not ameliorate pre‐existing developmental differences or risk to other organ systems. Further research is needed to aid in standardization of care and follow‐up, as most patients no longer follow with a geneticist.

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

Cited by 42 publications

References 43 publications

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital

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