45 top medical experts on Oroticaciduria 1 across 10 countries and 6 U.S. states, including 5 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Oroticaciduria 1: A rare genetic disorder of pyrimidine metabolism characterized by early onset of megaloblastic anemia, global developmental delay, and failure to thrive, associated with massive urinary overexcretion of orotic acid (sometimes with orotic acid crystalluria). Patients without megaloblastic anemia, but with additional manifestations such as epilepsy, have also been reported.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Support Organizations
- Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: hgf1@hgfound.org
Website: http://www.hgfound.org/
- Restricted Growth Association
P.O. Box 4744
Dorchester
Dorset, Intl DT2 9FA
United Kingdom
Telephone: 01308 898445
Fax: 01308 898445
Website: http://www.restrictedgrowth.co.uk
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- Synonyms: Orotate phosphoribosyltransferase and omp decarboxylase deficiency, Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency, Uridine monophosphate synthase deficiency, Uridine monophosphate synthetase deficiency
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