Skip to main content
SpringerLink
Log in

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant

  • Letter to the Editors
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Demirdas S, Schröder CH (2010) An infant with orange-colored urine. Pediatr Nephrol 25:381

    Article  PubMed  Google Scholar 

  2. Jinnah HA (2009) Lesch-Nyhan disease: from mechanism to model and back again. Dis Model Mech 2:116–121

    Article  CAS  PubMed  Google Scholar 

  3. Torres RJ, Puig JG (2007) Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2:48

    Article  PubMed  Google Scholar 

  4. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O’Neill JP (2000) The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 463:309–326

    Article  CAS  PubMed  Google Scholar 

  5. García MG, Torres RJ, Prior C, Puig JG (2008) Normal HPRT coding region in complete and partial HPRT deficiency. Mol Genet Metab 94:167–172

    Article  PubMed  Google Scholar 

  6. Yang MT, Mak SC, Chi CS, Lin HY, Lii YP, Wu KH, Shian WJ (1994) Lesch-Nyhan Syndrome: report on two brothers. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 35:552–558

    CAS  PubMed  Google Scholar 

  7. Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG, Lesch-Nyhan Disease International Study Group (2006) Delineation of the motor disorder of Lesch-Nyhan disease. Brain 129:1201–1217

    Article  CAS  PubMed  Google Scholar 

  8. Küpeli S, Yurdakök M, Kilinc G, Bilgetekin E (2005) Urinary uric acid levels and discoloration of diapers in healthy neonates. Pediatr Nephrol 20:1361–1362

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pharmacology, University of Florence, Florence, Italy

    Serena Gasperini, Renzo Guerrini, Giancarlo la Marca & Maria Alice Donati

  2. Pediatric Unit, Villamarina Hospital, Piombino, Livorno, Italy

    Stefano Stagi

  3. Paediatric Unit-“Ceppo” Hospital Pistoia, Pistoia, Tuscany, Italy

    Ugo Gasperini

  4. Metabolic Diseases Unit, Meyer Children Hospital of Florence, Viale Pieraccini 24, 50139, Florence, Italy

    Serena Gasperini

Authors
  1. Serena Gasperini
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Stefano Stagi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ugo Gasperini
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Renzo Guerrini
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Giancarlo la Marca
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Maria Alice Donati
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Serena Gasperini.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Gasperini, S., Stagi, S., Gasperini, U. et al. Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant. Pediatr Nephrol 25, 2373–2374 (2010). https://doi.org/10.1007/s00467-010-1557-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-010-1557-3

Keywords

Search

Navigation