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Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
D. Aldrian, B. Waldner, GF. Vogel, AH. El-Gharbawy, P. McKiernan, J. Vockley, YE. Landau, F. Al Mutairi, KM. Stepien, AM. Kwok, Y. Yıldız, T. Honzik, S. Kelifova, C. Ellaway, AM. Lund, M. Mori, SC. Grünert, S. Scholl-Bürgi, T. Zöggeler, R....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu pozorovací studie, multicentrická studie, časopisecké články
Grantová podpora
RVO VFN 64165
Ministerstvo Zdravotnictví Ceské Republiky
PubMed
38375550
DOI
10.1002/jimd.12717
Knihovny.cz E-zdroje
- MeSH
- amoniak metabolismus MeSH
- arginin terapeutické užití MeSH
- citrulin MeSH
- hyperamonemie * farmakoterapie MeSH
- karbamoylfosfát metabolismus terapeutické užití MeSH
- karbamoylfosfátsynthasa (amoniak) metabolismus MeSH
- lidé MeSH
- nemoc z nedostatku ornithinkarbamoyltransferázy * chirurgie MeSH
- ornithinkarbamoyltransferasa MeSH
- retrospektivní studie MeSH
- transplantace jater * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- pozorovací studie MeSH
Carbamoyl phosphate synthetase 1 (CPS1) and ornithine transcarbamylase (OTC) deficiencies are rare urea cycle disorders, which can lead to life-threatening hyperammonemia. Liver transplantation (LT) provides a cure and offers an alternative to medical treatment and life-long dietary restrictions with permanent impending risk of hyperammonemia. Nevertheless, in most patients, metabolic aberrations persist after LT, especially low plasma citrulline levels, with questionable clinical impact. So far, little is known about these alterations and there is no consensus, whether l-citrulline substitution after LT improves patients' symptoms and outcomes. In this multicentre, retrospective, observational study of 24 patients who underwent LT for CPS1 (n = 11) or OTC (n = 13) deficiency, 25% did not receive l-citrulline or arginine substitution. Correlation analysis revealed no correlation between substitution dosage and citrulline levels (CPS1, p = 0.8 and OTC, p = 1). Arginine levels after liver transplantation were normal after LT independent of citrulline substitution. Native liver survival had no impact on mental impairment (p = 0.67). Regression analysis showed no correlation between l-citrulline substitution and failure to thrive (p = 0.611) or neurological outcome (p = 0.701). Peak ammonia had a significant effect on mental impairment (p = 0.017). Peak plasma ammonia levels correlate with mental impairment after LT in CPS1 and OTC deficiency. Growth and intellectual impairment after LT are not significantly associated with l-citrulline substitution.
Department of Paediatrics 1 Medical University of Innsbruck Innsbruck Austria
Department of Pediatrics and Adolescent Medicine Hong Kong Children's Hospital Kowloon Hong Kong
Department of Pediatrics The Ohio State University College of Medicine Columbus Ohio USA
Division of Genetic and Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA
Institute of Cell Biology Biocenter Medical University of Innsbruck Innsbruck Austria
Citace poskytuje Crossref.org
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- $a Carbamoyl phosphate synthetase 1 (CPS1) and ornithine transcarbamylase (OTC) deficiencies are rare urea cycle disorders, which can lead to life-threatening hyperammonemia. Liver transplantation (LT) provides a cure and offers an alternative to medical treatment and life-long dietary restrictions with permanent impending risk of hyperammonemia. Nevertheless, in most patients, metabolic aberrations persist after LT, especially low plasma citrulline levels, with questionable clinical impact. So far, little is known about these alterations and there is no consensus, whether l-citrulline substitution after LT improves patients' symptoms and outcomes. In this multicentre, retrospective, observational study of 24 patients who underwent LT for CPS1 (n = 11) or OTC (n = 13) deficiency, 25% did not receive l-citrulline or arginine substitution. Correlation analysis revealed no correlation between substitution dosage and citrulline levels (CPS1, p = 0.8 and OTC, p = 1). Arginine levels after liver transplantation were normal after LT independent of citrulline substitution. Native liver survival had no impact on mental impairment (p = 0.67). Regression analysis showed no correlation between l-citrulline substitution and failure to thrive (p = 0.611) or neurological outcome (p = 0.701). Peak ammonia had a significant effect on mental impairment (p = 0.017). Peak plasma ammonia levels correlate with mental impairment after LT in CPS1 and OTC deficiency. Growth and intellectual impairment after LT are not significantly associated with l-citrulline substitution.
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