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
Maines E et al: Formulation and clinical evaluation of sodium benzoate oral solution for the treatment of urea cycle disorders in pediatric patients. AAPS PharmSciTech. 21(3):100, 2020
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
Jichlinski A et al: "Cerebral palsy" in a patient with arginase deficiency. Semin Pediatr Neurol. 26:110-4, 2018
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
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
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
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
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
Helman G et al: The urea cycle disorders. Semin Neurol. 34(3):341-9, 2014
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
Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
Häberle J et al: Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 7:32, 2012
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
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
Maines E et al: Formulation and clinical evaluation of sodium benzoate oral solution for the treatment of urea cycle disorders in pediatric patients. AAPS PharmSciTech. 21(3):100, 2020
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
Jichlinski A et al: "Cerebral palsy" in a patient with arginase deficiency. Semin Pediatr Neurol. 26:110-4, 2018
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
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
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
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
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
Helman G et al: The urea cycle disorders. Semin Neurol. 34(3):341-9, 2014
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
Gropman AL: Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol. 19(4):203-10, 2012
Häberle J et al: Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 7:32, 2012
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
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
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