Postpartum Coma and Death due to Carbamoyl-Phosphate Synthetase I Deficiency
Authors: Lee-Jun C. Wong
Journal: Annals of Internal Medicine (1994)

Brief Reports1 February 1994Postpartum Coma and Death due to Carbamoyl-Phosphate Synthetase I DeficiencyLee-Jun C. Wong, PhD, William J. Craigen, PhD, and William E. O'Brien, PhDLee-Jun C. Wong, PhDFrom Baylor College of Medicine, One Baylor Plaza, Houston, Texas., William J. Craigen, PhDFrom Baylor College of Medicine, One Baylor Plaza, Houston, Texas., and William E. O'Brien, PhDFrom Baylor College of Medicine, One Baylor Plaza, Houston, Texas.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-120-3-199402010-00007 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Urea is formed through the action of five enzymes that compose the urea cycle. Inherited deficiencies of each of the five enzymes have been described and reviewed [1]. The classic presentation of patients with a deficiency of any of these enzymes, with the exception of arginase, occurs during the neonatal period and is due to acute hyperammonemia. Rare cases have been reported for each of these enzyme deficiencies in which the age of onset is after the neonatal period. We describe a patient presenting with coma after childbirth who had a deficiency of carbamoyl-phosphate synthetase I.Case PatientA 26-year-old ...References1. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 1989:629-63. Google Scholar2. Gelehrter TD, Snodgrass PJ. Lethal neonatal deficiency of carbamyl phosphate synthetase. N Engl J Med. 1974; 290:430-3. Google Scholar3. Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus: a cause of postpartum coma. N Engl J Med. 1990; 322:1652-5. Google Scholar4. McReynolds JW, Crowley B, Mahoney MJ, Rosenberg LE. Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet. 1981; 33:345-53. Google Scholar5. Arashima S, Matsuda I. A case of carbamyl phosphate synthetase deficiency. Tohoku J Exp Med. 1972; 107:143-7. Google Scholar6. Mantagos S, Tsagaraki S, Burgess EA, Oberholzer V, Palmer T, Sacks J, et al. Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity. Arch Dis Child. 1978; 53:230-4. Google Scholar7. Wilson RG, Masters PL. Neonatal death due to carbamyl phosphate synthetase deficiency. Aust Paediatr J. 1977; 13:119-21. Google Scholar8. Kline JL, Hug G, Schubert WK, Berry H. Arginine deficiency syndrome. Its occurrence in carbamyl phosphate synthetase deficiency. Am J Dis Child. 1981; 135:437-42. Google Scholar9. Batshaw M, Brusilow S, Walser M. Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids. N Engl J Med. 1975; 292:1085-9. Google Scholar10. Lo WD, Sloan HR, Sotos JF, Klinger RJ. Late clinical presentation of partial carbamyl phosphate synthetase I deficiency. Am J Dis Child. 1993; 147:267-9. Google Scholar11. Nuzum CT, Snodgrass PJ. Multiple assays of the five urea cycle enzymes in human liver homogenates. In: Grisolia S, Baguena R, Mayor F, eds. The Urea Cycle. New York: John Wiley & Sons; 1976:325-49. Google Scholar Author, Article, and Disclosure InformationAffiliations: From Baylor College of Medicine, One Baylor Plaza, Houston, Texas.Corresponding Author: William E. O'Brien, PhD, Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030.Acknowledgments: The authors thank Drs. Hope Northrup, Cheryl Robinson, and Harold Gottlieb for clinical assistance; and Arthur Warman, Jackie Heidorn, and Linda Langley in the Biochemical Genetics Laboratory at Baylor College of Medicine for technical assistance. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByMaternal Genetic Disorders That Affect Fetal HealthNeonatal ECMO for Cardiopulmonary Failure Due to Carbamoyl Phosphate Synthetase I DeficiencyCPS1 T1405N polymorphism, HDL cholesterol, homocysteine and renal function are risk factors of VPA induced hyperammonemia among epilepsy patientsMini-Review: Challenges in Newborn Screening for Urea Cycle DisordersPsychiatric Consultation to the Postpartum MotherA series of pregnancies in women with inherited metabolic diseaseLate-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantationMolecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsGenetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiencyCarbamyl phosphate synthetase deficiency and postpartum hyperammonemiaOther Inherited Metabolic Disorders of the LiverA case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of ageContrasting features of urea cycle disorders in human patients and knockout mouse modelsHyperammonemia in the ICUCarbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-oldAmino Acid Changes during Successful Pregnancy in a Case of Lysinuric Protein InsufficiencyUnmasked Adult-Onset Urea Cycle Disorders in the Critical Care SettingNutritional Management of Urea Cycle DisordersPostpartum "Psychosis" in Mild Argininosuccinate Synthetase DeficiencyInherited metabolic diseases and pregnancyHyperammonemia, Bane of the BrainPregnancy in a healthy woman with untreated citrullinemiaInborn errors of metabolism and pregnancyHyperammonaemia with normal liver function: An uncommon cause of comaSuccessful pregnancy outcome in a woman with argininosuccinate lyase deficiencyMolecular genetic research into carbamoyl-phosphate synthase I: Molecular defects and linkage markersPregnancy in a woman with maple syrup urine diseaseIntestinal Carbamoyl Phosphate Synthase I in Human and Rat: Expression During Development Shows Species Differences and Mosaic Expression in Duodenum of Both SpeciesOther Common/Treatable Childhood Genetic Liver DisordersPregnancy and argininosuccinic aciduriaSurvival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS IHyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency 1 February 1994Volume 120, Issue 3Page: 216-217KeywordsAmmoniaBirthBlood plasmaComaEnzymesEpileptic seizuresLigasesLiverProteolysisUrea Issue Published: 1 February 1994 CopyrightCopyright © 1994 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...