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Urea Cycle Disorders
Kevin R. Moore, MD; P. Ellen Grant, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Definitions

              • 6 disorders of urea cycle
                • Ornithine transcarbamylase deficiency (OTCD)
                • Citrullinemia or argininosuccinate synthetase deficiency
                • Carbamoyl phosphate synthetase 1 deficiency
                • Argininosuccinate aciduria or argininosuccinate lyase deficiency
                • Argininemia or arginase deficiency (AD)
                • N-acetylglutamate synthase deficiency

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    Selected References

                                    1. Ninković D et al: The therapeutic hypothermia in treatment of hyperammonemic encephalopathy due to urea cycle disorders and organic acidemias. Klin Padiatr. 231(2):74-9, 2019
                                    2. Jichlinski A et al: "Cerebral palsy" in a patient with arginase deficiency. Semin Pediatr Neurol. 26:110-4, 2018
                                    3. Kido J et al: Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment. Metab Brain Dis. 33(5):1517-23, 2018
                                    4. Wang FS et al: Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature. J Med Case Rep. 12(1):208, 2018
                                    5. Waisbren SE et al: Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 39(4):573-84, 2016
                                    6. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 38(6):1041-57 2015
                                    7. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 38(6):1059-74, 2015
                                    8. Helman G et al: The urea cycle disorders. Semin Neurol. 34(3):341-9, 2014
                                    9. Pacheco-Colón I et al: Advances in urea cycle neuroimaging: proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013. Mol Genet Metab. 113(1-2):118-26, 2014
                                    10. Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
                                    11. Häberle J et al: Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 7:32, 2012
                                    12. Summar ML et al: Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr. 97(10):1420-5, 2008
                                    13. Takanashi J et al: Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 24(6):1184-7, 2003
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Definitions

                                                • 6 disorders of urea cycle
                                                  • Ornithine transcarbamylase deficiency (OTCD)
                                                  • Citrullinemia or argininosuccinate synthetase deficiency
                                                  • Carbamoyl phosphate synthetase 1 deficiency
                                                  • Argininosuccinate aciduria or argininosuccinate lyase deficiency
                                                  • Argininemia or arginase deficiency (AD)
                                                  • N-acetylglutamate synthase deficiency

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            • Microscopic Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Natural History & Prognosis

                                                                    • Treatment

                                                                      Selected References

                                                                      1. Ninković D et al: The therapeutic hypothermia in treatment of hyperammonemic encephalopathy due to urea cycle disorders and organic acidemias. Klin Padiatr. 231(2):74-9, 2019
                                                                      2. Jichlinski A et al: "Cerebral palsy" in a patient with arginase deficiency. Semin Pediatr Neurol. 26:110-4, 2018
                                                                      3. Kido J et al: Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment. Metab Brain Dis. 33(5):1517-23, 2018
                                                                      4. Wang FS et al: Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature. J Med Case Rep. 12(1):208, 2018
                                                                      5. Waisbren SE et al: Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 39(4):573-84, 2016
                                                                      6. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 38(6):1041-57 2015
                                                                      7. Kölker S et al: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 38(6):1059-74, 2015
                                                                      8. Helman G et al: The urea cycle disorders. Semin Neurol. 34(3):341-9, 2014
                                                                      9. Pacheco-Colón I et al: Advances in urea cycle neuroimaging: proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013. Mol Genet Metab. 113(1-2):118-26, 2014
                                                                      10. Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
                                                                      11. Häberle J et al: Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 7:32, 2012
                                                                      12. Summar ML et al: Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr. 97(10):1420-5, 2008
                                                                      13. Takanashi J et al: Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 24(6):1184-7, 2003