Are your patients with urea cycle disorders (UCDs) under control or under-controlled?
There is risk at any elevation.1,2
Living with a UCD is living at risk.
Patients with UCDs are vulnerable to disease-related consequences, including cognitive dysfunction and hyperammonemic crisis.3 Learn more below and in the Patient Types section about the way the disease presents in different patients.
Genetic defects in the urea cycle may leave patients with UCDs without a physiological safeguard against elevated ammonia levels.4-7 Learn more about the different presentations of UCDs: “asymptomatic,” late-onset, and early-onset.
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Related literature summaries
Longitudinal study tracking hyperammonemic events and outcomes over a 21-year period (Summar 2008)
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Examination of adult patients with late-onset partial OTC deficiency using magnetic resonance imaging and cognitive testing (Gropman 2010)
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Analysis of baseline neuropsychological data of children with UCDs and evaluation of differences in neonatal vs late-onset presentation (Krivitzky 2009)
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Presentation of magnetic resonance spectroscopy (MRS) data in patients with symptomatic and “asymptomatic” OTC deficiency (Gropman 2008)
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Case reports of 3 related females with varying presentations of OTC deficiency, showing the value of correct diagnosis and testing for UCDs (Legras 2002)
Read more
Longitudinal study tracking hyperammonemic events and outcomes over a 21-year period (Summar 2008)
Read moreExamination of adult patients with late-onset partial OTC deficiency using magnetic resonance imaging and cognitive testing (Gropman 2010)
Read moreAnalysis of baseline neuropsychological data of children with UCDs and evaluation of differences in neonatal vs late-onset presentation (Krivitzky 2009)
Read morePresentation of magnetic resonance spectroscopy (MRS) data in patients with symptomatic and “asymptomatic” OTC deficiency (Gropman 2008)
Read moreCase reports of 3 related females with varying presentations of OTC deficiency, showing the value of correct diagnosis and testing for UCDs (Legras 2002)
Read moreStay informed
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*Required fieldsReferences: 1. Lee B, Diaz GA, Rhead W, et al. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015;17(7):561-568. doi:10.1038/gim.2014.148. 2. Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr. 2008;97(10):1420-1425. doi:10.1111/j.1651-2227.2008.00952.x. 3. Häberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. doi:10.1186/1750-1172-7-32. 4. Cohn RM, Roth KS. Hyperammonemia, bane of the brain. Clin Pediatr (Phila). 2004;43(8):683-689. doi:10.1177/000992280404300801. 5. McGuire PJ, Lee HS, Summar ML; Urea Cycle Disorders Consortium. Infectious precipitants of acute hyperammonemia are associated with indicators of increased morbidity in patients with urea cycle disorders. J Pediatr. 2013;163(6):1705-1710.e1. doi:10.1016/j.jpeds.2013.08.029. 6. Summar M, Tuchman M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J Pediatr. 2001;138(1)(suppl):S6-S10. doi:10.1067/mpd.2001.111831. 7. The Physician’s Guide to Urea Cycle Disorders. National Organization for Rare Disorders website. 2012. http://nordphysicianguides.org/urea-cycle-disorders/. Accessed October 12, 2015.
