APRT Deficiency – RDG

  • Aims of the Group

    1.   To collect clinical data on patients with APRT Deficiency in a Registry. This will allow us to:

    • study the causes, natural history and outcome of the condition
    • develop patient cohorts for future studies


    2.   To collect biological samples for future studies in a Biobank. This will allow us to:

    • identify factors influencing the course of APRT Deficiency
    • determine the role of various genes


    3.  To develop new methods to measure urinary purine excretion. This will improve tools that allow us to:

    • study the effectiveness of pharmacological and dietary interventions
    • identify factors influencing the course of the condition


    4.  To work with patient organisations, health care professionals and researchers:

    • to enhance the education and training aspect of this project
    • to develop strategies to increase the awareness and early detection of APRT Deficiency and improve patient outcomes
  • Current Activities

    1. Enrolling patients into RaDaR

    Analysis of data from international registries has led to the publication of review papers and the development of diagnostic guidelines. These may be refined with the inclusion of UK data.

    2.  Improving ways of measuring DHA

    Our Icelandic colleagues have been developing a way to measure DHA in the urine to help diagnose APRT Deficeincy and monitor drug therapy.

    3. Conducting a pilot study with APRT Deficiency patients

    We are comparing the effect of two different drugs (allopurinol and febuxostat) and dietary modification on urinary DHA excretion.


    Funder: National Institutes of Health, USA

    Title of project:  Rare Kidney Stone Consortium 6401 (Registry) and 6417 (ProRKSC)

    Principal Investigator(s): Dr S Moochhala, Dr V Edvardsson, Prof R Palsson

  • International Links

    Because APRT Deficiency is such a rare condition, we aim to collaborate extensively with colleagues based in Iceland and the USA in order to achieve the aims of the group. Details of these collaborations can be found on the Rare Kidney Stone Consortium website.

  • Patient Support Groups


  • Reports
  • Group Members
    • Dr Mike Almond, Southend University Hospital
    • Dr Vidar Edvardsson, Associate Professor of Pediatrics, Landspitali University Hospital, Reykjavik, Iceland
    • Dr Lynette Fairbanks, Biochemist, Guy’s Hospital, London
    • Gudbrandur Gudmundsson, Patient Representative
    • Dr Sally Hulton, Paediatric Nephology Consultant, Birmingham Children’s Hospital
    • Mr Waseem Iqbal, Patient Representative
    • Mrs Alison Montgomery, Patient Representative
    • Dr Shabbir Moochhala, Royal Free Hospital, London RDG Lead
    • Dr Runolfur Palsson, Associate Professor of Medicine, Landspitali University Hospital, Reykjavik, Iceland
    • Dr Gill Rumsby, Biochemist, University College London
    • Dr Daron Smith, Urologist, University College Hospital, London
    • Michelle Smith, Clinical Nurse Specialist, University Hospital Birmingham
  • Disclosure of Conflicts of Interest

    None reported

APRT-Deficiency RDG Version 12 April 2019
Written by the APRT-Deficiency Rare Disease Group