Argininosuccinate Lyase (ASL) Deficiency Differential Diagnoses

1. Mitchell S, Ellingson C, Coyne T, et al. Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Hum Mutat. 2009 Jan. 30(1):56-60. [QxMD MEDLINE Link].

2. Nagamani SC, Erez A, Lee B. Argininosuccinate lyase deficiency. Genet Med. 2012 Jan 5. [QxMD MEDLINE Link].

3. Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. Am J Med Genet C Semin Med Genet. 2011 Feb 15. 157(1):45-53. [QxMD MEDLINE Link]. [Full Text].

4. Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, et al. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat Med. 2011 Nov 13. 17(12):1619-26. [QxMD MEDLINE Link].

5. Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders. Mol Genet Metab. September-October 2013. 110:179-180. [QxMD MEDLINE Link].

6. Mercimek-Mahmutoglu S, Moeslinger D, Häberle J, Engel K, Herle M, Strobl MW, et al. Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Mol Genet Metab. 2010 May. 100(1):24-8. [QxMD MEDLINE Link].

7. Falik-Zaccai TC, Kfir N, Frenkel P, et al. Population screening in a Druze community: the challenge and the reward. Genet Med. 2008 Dec. 10(12):903-9. [QxMD MEDLINE Link].

8. Keskinen P, Siitonen A, Salo M. Hereditary urea cycle diseases in Finland. Acta Paediatr. 2008 Oct. 97(10):1412-9. [QxMD MEDLINE Link].

9. Zimmermann A, Bachmann C, Baumgartner R. Severe liver fibrosis in argininosuccinic aciduria. Arch Pathol Lab Med. 1986. 110:136-140. [QxMD MEDLINE Link].

10. Ficicioglu C, Mandell R, Shih VE. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Med. Novemeber 2009. 98:273-277. [QxMD MEDLINE Link].

11. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, et al. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2012 Sep 7. [QxMD MEDLINE Link]. [Full Text].

12. Smith W, Diaz GA, Lichter-Konecki U, Berry SA, Harding CO, McCandless SE, et al. Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate. J Pediatr. 2013 Jan 13. [QxMD MEDLINE Link].

13. Berry GT, Steiner RD. Long-term management of patients with urea cycle disorders. J Pediatr. 2001 Jan. 138(1 Suppl):S56-60; discussion S60-1. [QxMD MEDLINE Link].

14. Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr. 2007 Jun. 137(6 Suppl 2):1656S-1661S. [QxMD MEDLINE Link].

15. Brusilow SW, Batshaw ML. Arginine therapy of argininosuccinase deficiency. Lancet. 1979 Jan 20. 1(8108):124-7. [QxMD MEDLINE Link].

16. Collins FS, Summer GK, Schwartz RP. Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. J Pediatr. 1980 Mar. 96(3 Pt 1):429-31. [QxMD MEDLINE Link].

17. Glick NR, Snodgrass PJ, Schafer IA. Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum Genet. 1976 Jan. 28(01):22-30. [QxMD MEDLINE Link].

18. Kleijer WJ, Garritsen VH, van der Sterre ML, et al. Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. Prenatal Diagnosis. 2006 Mar. 26(3):242-7. [QxMD MEDLINE Link].

19. Linnebank M, Tschiedel E, Haberle J, et al. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet. 2002 Oct. 111(4-5):350-9. [QxMD MEDLINE Link].

20. Reid Sutton V, Pan Y, Davis EC, Craigen WJ. A mouse model of argininosuccinic aciduria: biochemical characterization. Mol Genet Metab. 2003 Jan. 78(1):11-6. [QxMD MEDLINE Link].

21. Saudubray JM, Rabier D. Biomarkers identified in inborn errors for lysine, arginine, and ornithine. J Nutr. 2007 Jun. 137(6 Suppl 2):1669S-1672S. [QxMD MEDLINE Link].

22. Stadler S, Gempel K, Bieger I, et al. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry. J Inherit Metab Dis. 2001 Jun. 24(3):370-8. [QxMD MEDLINE Link].

23. Steiner RD, Cederbaum SD. Laboratory evaluation of urea cycle disorders. J Pediatr. 2001 Jan. 138(1 Suppl):S21-9. [QxMD MEDLINE Link].

24. Stephenne X, Najimi M, Sibille C, Nassogne MC, Smets F, Sokal EM. Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency. Gastroenterology. 2006 Apr. 130(4):1317-23. [QxMD MEDLINE Link].

25. Trevisson E, Salviati L, Baldoin MC, et al. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 2007 Feb 26. 28(7):694-702. [QxMD MEDLINE Link].

26. Widhalm K, Koch S, Scheibenreiter S, et al. Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. Pediatrics. 1992 Jun. 89(6 Pt 2):1182-4. [QxMD MEDLINE Link].

27. Hu L, Pandey AV, Balmer C, et al. Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. J Inherit Metab Dis. March 17 2015. Epub ahead of print:[QxMD MEDLINE Link].

28. Premkumar MH, Sule G, Nagamani SC, et al. Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis. Am J Physiol Gastrointest Liver Physiol. August 2014. 307:G347-G354. [QxMD MEDLINE Link].

29. Balmer C, Pandey AV, Ruefenacht V, et al. Mutations and polymorphisms in the human argininosuccinate lyase(ASL) gene. Hum Mutat. January 2014. 35:27-35. [QxMD MEDLINE Link].

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

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.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Robert D Steiner, MD, FAAP, FACMG Professor (Clinical), Department of Pediatrics, University of Wisconsin School of Medicine and Public Health; Editor-in-Chief, Genetics in Medicine; Chief Medical Officer, PreventionGenetics

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

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: PreventionGenetics-part of Exact Sciences; Acer Therapeutics; DNARx; Best Doctors; PTC Therapeutics; CTX Alliance; Leadiant' Travere<br/>Received income in an amount equal to or greater than $250 from: Marshfield Clinic; PreventionGenetics-part of Exact Sciences; Acer Therapeutics; PTC Therapeutics; DNARx; Leadiant; Travere.

• Print this section
• Print the entire contents of
• Print the entire contents of article