Renal Stones in an Infant with Microcephaly and Spastic Quadriparesis: Answers

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2019 Dec 19

PMID 31848698

Citations 2

Authors

Pediredla Karunakar

Sriram Krishnamurthy

Ananthanarayanan Kasinathan

Raja Hariharan

Aakash Chandran Chidambaram

Affiliations

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Citing Articles

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

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Review of childhood genetic nephrolithiasis and nephrocalcinosis.

Gefen A, Zaritsky J Front Genet. 2024; 15:1381174.

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References

Jinnah H, Visser J, Harris J, Verdu A, Larovere L, Ceballos-Picot I . Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006; 129(Pt 5):1201-17. PMC: 3508431. DOI: 10.1093/brain/awl056. View

Kitamura S, Sugihara K, Ohta S . Drug-metabolizing ability of molybdenum hydroxylases. Drug Metab Pharmacokinet. 2006; 21(2):83-98. DOI: 10.2133/dmpk.21.83. View

Topcu M, Coskun T, Haliloglu G, Saatci I . Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol. 2001; 16(4):264-70. DOI: 10.1177/088307380101600406. View

Ronnefarth G, Misselwitz J . Nephrocalcinosis in children: a retrospective survey. Members of the Arbeitsgemeinschaft für pädiatrische Nephrologie. Pediatr Nephrol. 2000; 14(10-11):1016-21. DOI: 10.1007/s004670050065. View

Schwahn B, van Spronsen F, Belaidi A, Bowhay S, Christodoulou J, Derks T . Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Lancet. 2015; 386(10007):1955-1963. DOI: 10.1016/S0140-6736(15)00124-5. View

Sperling O . Hereditary renal hypouricemia. Mol Genet Metab. 2006; 89(1-2):14-8. DOI: 10.1016/j.ymgme.2006.03.015. View

Arican P, Gencpinar P, Kirbiyik O, Bozkaya Yilmaz S, Ersen A, Oztekin O . The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations. Pediatr Neurol. 2019; 99:55-59. DOI: 10.1016/j.pediatrneurol.2019.04.021. View

Graf W, Oleinik O, Jack R, Weiss A, Johnson J . Ahomocysteinemia in molybdenum cofactor deficiency. Neurology. 1998; 51(3):860-2. DOI: 10.1212/wnl.51.3.860. View

Sass J, Kishikawa M, Puttinger R, Reiss J, Erwa W, Shimizu A . Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency. J Inherit Metab Dis. 2003; 26(1):80-2. DOI: 10.1023/a:1024091900547. View

10.

Arikyants N, Sarkissian A, Hesse A, Eggermann T, Leumann E, Steinmann B . Xanthinuria type I: a rare cause of urolithiasis. Pediatr Nephrol. 2006; 22(2):310-4. DOI: 10.1007/s00467-006-0267-3. View

11.

Boles R, Ment L, Meyn M, Horwich A, Kratz L, Rinaldo P . Short-term response to dietary therapy in molybdenum cofactor deficiency. Ann Neurol. 1993; 34(5):742-4. DOI: 10.1002/ana.410340520. View

12.

Hoppe B, Kemper M . Diagnostic examination of the child with urolithiasis or nephrocalcinosis. Pediatr Nephrol. 2008; 25(3):403-13. PMC: 2810372. DOI: 10.1007/s00467-008-1073-x. View

13.

Tanaka S, Pope 4th J . Pediatric stone disease. Curr Urol Rep. 2009; 10(2):138-43. DOI: 10.1007/s11934-009-0025-8. View

14.

Stiburkova B, Pavelcova K, Petru L, Krijt J . Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II). Toxicol Appl Pharmacol. 2018; 353:102-108. DOI: 10.1016/j.taap.2018.06.015. View

15.

Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T . Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. Biochem Biophys Res Commun. 2001; 282(5):1194-200. DOI: 10.1006/bbrc.2001.4719. View

16.

Reiss J, Hahnewald R . Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat. 2010; 32(1):10-8. DOI: 10.1002/humu.21390. View

17.

Mantan M, Bagga A, Virdi V, Menon S, Hari P . Etiology of nephrocalcinosis in northern Indian children. Pediatr Nephrol. 2007; 22(6):829-33. DOI: 10.1007/s00467-006-0425-7. View