Glutathione Synthetase Deficiency Differential Diagnoses

  • Author: Darius J Adams, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Apr 2, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Darius J Adams, MD  Assistant Professor, Department of Pediatrics, Section of Genetics and Metabolism, Albany Medical Center

Darius J Adams, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Melissa P Wasserstein, MD  Associate Professor, Departments of Genetics and Genomic Sciences and Pediatrics, Mount Sinai School of Medicine

Melissa P Wasserstein, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert D Steiner, MD  Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Faculty, Program in Molecular and Cellular Biosciences, Oregon Health and Science University School of Medicine; Attending Physician, Doernbecher Children's Hospital; Staff Consultant, Director of Metabolic Bone Disease Clinic, Shriners Hospital Portland

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research

Disclosure: Amicus Honoraria Consulting; Actelion Honoraria Consulting; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Consulting; Genzyme Honoraria Consulting; Shire Honoraria Consulting

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Simon E, Vogel M, Fingerhut R, et al. Diagnosis of glutathione synthetase deficiency in newborn screening. J Inherit Metab Dis. Sep 2 2009;[Medline].

  2. Dahl N, Pigg M, Ristoff E, et al. Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. Hum Mol Genet. Jul 1997;6(7):1147-52. [Medline].

  3. Kraut JA, Madias NE. Metabolic acidosis: pathophysiology, diagnosis and management. Nat Rev Nephrol. May 2010;6(5):274-85. [Medline].

  4. Manning NJ, Davies NP, Olpin SE, et al. Prenatal diagnosis of glutathione synthase deficiency. Prenat Diagn. Jun 1994;14(6):475-8. [Medline].

  5. Atkuri KR, Mantovani JJ, Herzenberg LA, Herzenberg LA. N-Acetylcysteine--a safe antidote for cysteine/glutathione deficiency. Curr Opin Pharmacol. Aug 2007;7(4):355-9. [Medline].

  6. Boxer LA, Oliver JM, Spielberg SP, et al. Protection of granulocytes by vitamin E in glutathione synthetase deficiency. N Engl J Med. Oct 25 1979;301(17):901-5. [Medline].

  7. Bruggemann LW, Groenendaal F, Ristoff E, et al. Glutathione synthetase deficiency associated with antenatal cerebral bleeding. J Inherit Metab Dis. 2004;27(2):275-6. [Medline].

  8. Divry P, Roulaud-Parrot F, Dorche C, et al. 5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome. J Inherit Metab Dis. 1991;14(3):341-4. [Medline].

  9. Erasmus E, Mienie LJ, de Vries WN, et al. Prenatal analysis in two suspected cases of glutathione synthetase deficiency. J Inherit Metab Dis. 1993;16(5):837-43. [Medline].

  10. Fily A, Vaillant C, Truffert P. [Gluthathion synthetase deficit in a newborn infant.]. Arch Pediatr. Nov 2004;11(11):1339-41. [Medline].

  11. Jellum E, Kluge T, Borresen HC, et al. Pyroglutamic aciduria--a new inborn error of metabolism. Scand J Clin Lab Invest. Dec 1970;26(4):327-35. [Medline].

  12. Larsson A, Zetterstrom R, Hagenfeldt L, et al. Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism. Pediatr Res. Oct 1974;8(10):852-6. [Medline].

  13. Marstein S, Jellum E, Halpern B. Biochemical studies of erythrocytes in a patient with pyroglutamic acidemia (5-oxoprolinemia). New Engl J Med. 1976;295.

  14. Martensson J, Gustafsson J, Larsson A. A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria). J Inherit Metab Dis. 1989;12(2):120-30. [Medline].

  15. Meister A, Anderson ME. Glutathione. Annu Rev Biochem. 1983;52:711-60. [Medline].

  16. Mohler DN, Majerus PW, Minnich V, et al. Glutathione synthetase deficiency as a cause of hereditary hemolytic disease. N Engl J Med. Dec 3 1970;283(23):1253-7. [Medline].

  17. Njalsson R, Carlsson K, Winkler A, et al. Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. Hum Mutat. Dec 2003;22(6):497. [Medline].

  18. Ristoff E, Mayatepek E, Larsson A. Long-term clinical outcome in patients with glutathione synthetase deficiency. J Pediatr. Jul 2001;139(1):79-84. [Medline].

  19. Robertson PL, Buchanan DN, Muenzer J. 5-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis. J Pediatr. Jan 1991;118(1):92-5. [Medline].

  20. Shi ZZ, Habib GM, Rhead WJ, et al. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet. Nov 1996;14(3):361-5. [Medline].

  21. Spielberg SP, Boxer LA, Oliver JM, et al. Oxidative damage to neutrophils in glutathione synthetase deficiency. Br J Haematol. Jun 1979;42(2):215-23. [Medline].

  22. Uhlig S, Wendel A. The physiological consequences of glutathione variations. Life Sci. 1992;51(14):1083-94. [Medline].

  23. Webb GC, Vaska VL, Gali RR, et al. The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. Genomics. Dec 10 1995;30(3):617-9. [Medline].

  24. Yapicioaylu H, Satar M, Tutak E. A newborn infant with generalized glutathione synthetase deficiency. Turk J Pediatr. Jan-Mar 2004;46(1):72-5. [Medline].

 
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Biochemical pathway of glutathione synthetase.
 
 
 
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