Xanthinuria Differential Diagnoses

1. Mechler K, Mountford WK, Hoffmann GF, Ries M. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. Genet Med. 2015 Mar 12. [QxMD MEDLINE Link].

2. Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, et al. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Lancet. 2015 Sep 3. [QxMD MEDLINE Link].

3. Sikora P, Pijanowska M, Majewski M, Bienias B, Borzecka H, Zajczkowska M. Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. Pediatr Nephrol. 2006 Jul. 21(7):1045-7. [QxMD MEDLINE Link].

4. Yakubov R, Nir V, Kassem E, Klein-Kremer A. [Asymptomatic classical hereditary xanthinuria type 1]. Harefuah. 2012 Jun. 151(6):330-1, 380. [QxMD MEDLINE Link].

5. Sebesta I, Stiburkova B, Krijt J. Hereditary xanthinuria is not so rare disorder of purine metabolism. Nucleosides Nucleotides Nucleic Acids. 2018. 37 (6):324-8. [QxMD MEDLINE Link].

6. Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, et al. Modern diagnostic approach to hereditary xanthinuria. Urolithiasis. 2015 Feb. 43 (1):61-7. [QxMD MEDLINE Link].

7. Cameron JS, Moro F, Simmonds HA. Gout, uric acid and purine metabolism in paediatric nephrology. Pediatr Nephrol. 1993 Feb. 7(1):105-18. [QxMD MEDLINE Link].

8. Carpenter TO, Lebowitz RL, Nelson D, Bauer S. Hereditary xanthinuria presenting in infancy with nephrolithiasis. J Pediatr. 1986 Aug. 109(2):307-9. [QxMD MEDLINE Link].

9. Fildes RD. Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria. J Pediatr. 1989 Aug. 115(2):277-80. [QxMD MEDLINE Link].

10. Gomez GA, Stutzman L, Chu TM. Xanthine nephropathy during chemotherapy in deficiency of hypoxanthine- guanine phosphoribosyltransferase. Arch Intern Med. 1978 Jun. 138(6):1017-9. [QxMD MEDLINE Link].

11. Leimkuhler S, Charcosset M, Latour P, et al. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. Hum Genet. 2005. 117(6):565-70. [QxMD MEDLINE Link].

12. Macaya A, Brunso L, Fernandez-Castillo N, et al. Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics.Dec;. 2005. 36(6):389-94. [QxMD MEDLINE Link].

13. Reiter S, Simmonds HA, Zollner N, et al. Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol. Clin Chim Acta. 1990 Mar 15. 187(3):221-34. [QxMD MEDLINE Link].

14. Simmonds HA, Reiter S, Nishino T. Hereditary xanthinuria. The Metabolic and Molecular Bases of Inherited Disease. 1995. 1781-97.

15. Teksam O, Yurdakok M, Coskun T. Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. J Child Neurol. 2005. 20(2):155-7. [QxMD MEDLINE Link].

16. Zannolli R, Micheli V, Mazzei MA, et al. Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. J Med Genet. 2003 Nov. 40(11):e121. [QxMD MEDLINE Link].

Sahar Fathallah-Shaykh, MD Professor of Pediatrics, University of Alabama at Birmingham School of Medicine; Medical Director of Pediatric Dialysis Unit, Division of Pediatric Nephrology, Children's of Alabama

Sahar Fathallah-Shaykh, MD is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Steven C Diven, MD Medical Director of Pediatric Dialysis Unit, Assistant Professor, Department of Pediatrics, University of Texas Medical Branch at Galveston

Steven C Diven, MD is a member of the following medical societies: National Kidney Foundation

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.

Luther Travis, MD Professor Emeritus, Departments of Pediatrics, Nephrology and Diabetes, University of Texas Medical Branch School of Medicine

Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, Texas Pediatric Society

Disclosure: Nothing to disclose.

Craig B Langman, MD Tenured Professor of Pediatrics, The First Isaac A Abt, MD, Professor of Kidney Diseases (Emeritus), Northwestern University, The Feinberg School of Medicine; Staff Nephrologist, The Ann and Robert H Lurie Children’s Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Clinical Research, American Society for Bone and Mineral Research, American Society of Nephrology, American Society of Pediatric Nephrology, Association of Clinical Scientists, Cochrane Collaboration, International Bone and Mineral Society, International Conferences on Calcium Regulating Hormones, International Pediatric Nephrology Association, International Society of Nephrology, International Society of Renal Nutrition and Metabolism, Midwest Society for Pediatric Research, Pediatric Academic Societies, ROCK (Research on Calculus Kinetics) Society, Society for Pediatric Research

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Horizon Pharmaceuticals); ; Dicerna Pharmaceuticals<br/>Incyte Pharmaceuticals; Eli Lilly for: Federation bio; Dicerna pharmaceuticals.

Richard Neiberger, MD, PhD Director of Pediatric Renal Stone Disease Clinic, Associate Professor, Department of Pediatrics, Division of Nephrology, University of Florida College of Medicine and Shands Hospital

Richard Neiberger, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Medical Association, American Society of Nephrology, American Society of Pediatric Nephrology, Christian Medical and Dental Associations, Florida Medical Association, International Society for Peritoneal Dialysis, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Shock Society, Sigma Xi, The Scientific Research Honor Society, Southern Medical Association, Southern Society for Pediatric Research, Southwest Pediatric Nephrology Study Group

Disclosure: Nothing to disclose.

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