References
- Häberle J, Rubio V. Disorders of the urea cycle and related enzymes. In: Saudubray J-M, Baumgartner MR, Walter JH, editors. Inborn metabolic diseases: diagnosis and treatment. 6th ed. Berlin, Heidelberg: Springer; 2016. XXXI, pp. 295–308, 658 p. ISBN 978-3-662-49769-2.
- Häussinger D. Nitrogen metabolism in liver: structural and functional organization and physiological relevance. Biochem J. 1990;267(2):281–90. doi: 10.1042/bj2670281
- Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea cycle disorders overview. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Genetic counseling, editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2020. ISSN 2372-0697.
- Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision. J Inherit Metab Dis. 2019;42(6):1192–230. doi: 10.1002/jimd.12100
- Tuchman M. The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency. J Lab Clin Med. 1992;120(6):836–50.
- Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inherit Metab Dis. 1998;21(Suppl 1):40–58. doi: 10.1023/a:1005353407220
- Häberle J. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch Biochem Biophys. 2013;536(2):101–8. doi: 10.1016/j.abb.2013.04.009
- Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, et al.; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/. The incidence of urea cycle disorders. Mol Genet Metab. 2013;110(1–2):179–80. doi: 10.1016/j.ymgme.2013.07.008
- Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V, Mustedanagic M, et al. Understanding N-acetyl-L-glutamate synthase deficiency: mutational spectrum, impact of clinical mutations on enzyme functionality, and structural considerations. Hum Mutat. 2016;37(7):679–94. doi: 10.1002/humu.22995
- Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, et al. Citrin deficiency, a perplexing global disorder. Mol Genet Metab. 2009;96(1):44–9. doi: 10.1016/j. ymgme.2008.10.007
- Saheki T, Inoue K, Tushima A, Mutoh K, Kobayashi K. Citrin deficiency and current treatment concepts. Mol Genet Metab. 2010;100(Suppl 1):S59–64. doi: 10.1016/j.ymgme.2010.02.014
- Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H. Genotype-phenotype correlations in ornithine transcarbamylase deficiency: a mutation update. J Genet Genomics. 2015;42(5): 181–94. doi: 10.1016/j.jgg.2015.04.003
- Gropman AL, Summar M, Leonard JV. Neurological implications of urea cycle disorders. J Inherit Metab Dis. 2007;30(6):865–79. doi: 10.1007/s10545-007-0709-5
- Braissant O. Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab. 2010;100(Suppl 1):S3–12. doi: 10.1016/j.ymgme.2010.02.010
- Braissant O, McLin VA, Cudalbu C. Ammonia toxicity to the brain. J Inherit Metab Dis. 2013;36(4):595–612. doi: 10.1007/s10545-012-9546-2
- Leonard JV, Morris AA. Urea cycle disorders. Semin Neonatol. 2002;7(1):27–35. doi: 10.1053/siny.2001.0085
- Nassogne MC, Héron B, Touati G, Rabier D, Saudubray JM. Urea cycle defects: management and outcome. J Inherit Metab Dis. 2005;28(3):407–14. doi: 10.1007/s10545-005-0303-7
- Serrano M, Martins C, Pérez-Dueñas B, Gómez-López L, Murgui E, Fons C, et al. Neuropsychiatric manifestations in late-onset urea cycle disorder patients. J Child Neurol. 2010;25(3):352–8. doi: 10.1177/0883073809340696
- Fantur M, Karall D, Scholl-Buergi S, Häberle J, Rauchenzauner M, Fruehwirth M. Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe). Eur J Paediatr Neurol. 2013;17(1):112–5. doi: 10.1016/j. ejpn.2012.05.007
- Ihara K, Yoshino M, Hoshina T, Harada N, Kojima-Ishii K, Makimura M, et al. Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication. Pediatrics. 2013;131(1):e327–30. doi: 10.1542/peds.2012-0030
- Gropman AL, Batshaw ML. Cognitive outcome in urea cycle disorders. Mol Genet Metab. 2004;81(Suppl 1):S58–62. doi: 10.1016/j.ymgme.2003.11.016
- Gropman AL, Prust M, Breeden A, Fricke S, VanMeter J. Urea cycle defects and hyperammonemia: effects on functional imaging. Metab Brain Dis. 2013;28(2):269–75. doi: 10.1007/s11011-012-9348-0
- Hediger N, Landolt MA, Diez-Fernandez C, Huemer M, Häberle J. The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders. J Inherit Metab Dis. 2018;41(4):689–98. doi: 10.1007/s10545-018-0157-4
- Vergano SA, Crossette JM, Cusick FC, Desai BR, Deardorff MA, Sondheimer N. Improving surveillance for hyperammonemia in the newborn. Mol Genet Metab. 2013;110(1–2):102–5. doi: 10.1016/j.ymgme.2013.05.005
- Häberle J, Rubio V. Hyperammonemias and related disorders. pp. 47–62. doi: 10.1007/978-3-642-40337-8_4. In: Blau N, Duran M, Gibsin KM, Dionisi-Vici C, editors. Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Berlin, Heidelberg: Springer; 2014; XLV, 867 p. ISBN 978-3-642-40336-1. eBook ISBN 978-3-642-40337-8. doi: 10.1007/978-3-642-40337-8.
- Häberle J, Koch HG. Genetic approach to prenatal diagnosis in urea cycle defects. Prenat Diagn. 2004;24(5):378–83. doi: 10.1002/pd.884
- Gautschi M, Eggimann S, Nuofer J-M. Current role of enzyme analysis for urea cycle disorders. J Pediatr Biochem. 2014;4(1):23–32. doi: 10.3233/JPB-140103
- Yudkof M, Ah Mew N, Daikhin Y, Horyn O, Nissim I, Nissim I, et al. Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab. 2010;100(Suppl 1):S37–41. doi: 10.1016/j. ymgme.2010.02.017
- Yudkof M, Daikhin Y, Ye X, Wilson JM, Batshaw ML. In vivo measurement of ureagenesis with stable isotopes. J Inherit Metab Dis. 1998;21(Suppl 1):21–9. doi: 10.1023/a:1005345205403
- Mew NA, Yudkoff M, Tuchman M. Stable isotopes in the diagnosis and treatment of inherited hyperammonemia. J Pediatr Biochem. 2014;4(1):57–63. doi: 10.3233/JPB-140106
- Allegri G, Deplazes S, Grisch-Chan HM, Mathis D, Fingerhut R, Häberle J, et al. A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes. Clin Chim Acta. 2017;464:236–43. doi: 10.1016/j.cca.2016.11.038
- Ah Mew N, McCarter R, Daikhin Y, Lichter-Konecki U, Nissim I, Yudkof M, et al. Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate. J Pediatr. 2014;165(2):401–3.e3. doi: 10.1016/j. jpeds.2014.04.012
- Häberle J. Clinical practice: the management of hyperammonemia. Eur J Pediatr. 2011;170(1):21–34. doi: 10.1007/s00431-010-1369-2
- Picca S, Bartuli A, Dionisi-Vici C. Medical management and dialysis therapy for the infant with an inborn error of metabolism. Semin Nephrol. 2008;28(5):477–80. doi: 10.1016/j. semnephrol.2008.05.007
- Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M, et al. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol. 2001;16(11):862–7. doi: 10.1007/s004670100702
- Dixon M, MacDonald A, White F, Stafford J. Disorders of amino acid metabolism, organic acidaemias and urea cycle disorders. p. 381–525. doi: 10.1002/9781118915349.ch17. In: Shaw V, editor. Clinical paediatric dietetics. 4th ed. Chichester, West Sussex: John Wiley & Sons Ltd.; 2015; 864 p. ISBN 978-0470659984. Online ISBN: 978-1118915349. doi: 10.1002/9781118915349.
- Burlina AB. Hepatocyte transplantation for inborn errors of metabolism. J Inherit Metab Dis. 2004;27(3):373–83. doi: 10.1023/B:BOLI.0000031095.57411.8d
- Gallicano GI, Mishra L. Hepatocytes from induced pluripotent stem cells: a giant leap forward for hepatology. Hepatology. 2010;51(1):20–2. doi: 10.1002/hep.23474
- Puppi J, Tan N, Mitry RR, Hughes RD, Lehec S, Mieli-Vergani G, et al. Hepatocyte transplantation followed by auxiliary liver transplantation – a novel treatment for ornithine transcarbamylase deficiency. Am J Transplant. 2008;8(2):452–7. doi: 10.1111/j.1600-6143.2007.02058.x
- Spada M, Porta F, Righi D, Gazzera C, Tandoi F, Ferrero I, et al. Intrahepatic administration of human liver stem cells in infants with inherited neonatal-onset hyperammonemia: a phase i study. Stem Cell Rev Rep. 2020;16(1):186–97. doi: 10.1007/s12015-019-09925-z
- Wilson JM. Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency. Mol Genet Metab. 2009;96(4):151–7. doi: 10.1016/j.ymgme.2008.12.016
- Wang L, Bell P, Morizono H, He Z, Pumbo E, Yu H, et al. AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice. Mol Genet Metab. 2017;120(4):299–305. doi: 10.1016/j.ymgme.2017.02.011
- Burrage LC, Sun Q, Elsea SH, Jiang MM, Nagamani SC, Frankel AE, et al. Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015;24(22):6417–27. doi: 10.1093/hmg/ddv352