Orotic Aciduria Type 1 Overview

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Learn About Orotic Aciduria Type 1

What is the definition of Orotic Aciduria Type 1?
Orotic aciduria type I (OA1), also known as hereditary orotic aciduria, is a condition characterized by elevated levels of orotic acid in the urine. It typically becomes apparent in the first months of life with megaloblastic anemia, as well as delays in physical and intellectual development. OA1 is caused by changes in the UMPS gene and inheritance is autosomal recessive. OA1 differs from other causes of orotic aciduria, which may include mitochondrial disorders, lysinuric protein intolerance, and liver disease.
What are the alternative names for Orotic Aciduria Type 1?
  • Orotic aciduria type 1
  • Hereditary orotic aciduria
  • Hereditary orotic aciduria without megaloblastic anemia
  • Orotate phosphoribosyltransferase and omp decarboxylase deficiency
  • Orotic aciduria II (formerly)
  • Oroticaciduria 1
  • Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency
  • UMP synthtase deficiency
  • UMPS
  • UMPS deficiency
  • Uridine monophosphate synthase deficiency
  • Uridine monophosphate synthetase deficiency
Who are the top Orotic Aciduria Type 1 Local Doctors?
Elite in Orotic Aciduria Type 1
Arthavan Selvanathan
Elite in Orotic Aciduria Type 1
Arthavan Selvanathan
Westmead, NSW, AU 

Arthavan Selvanathan practices in Westmead, Australia. Selvanathan is rated as an Elite expert by MediFind in the treatment of Orotic Aciduria Type 1. Their top areas of expertise are Orotic Aciduria Type 1, Ornithine Transcarbamylase Deficiency, N-Acetylglutamate Synthase Deficiency, Urea Cycle Disorders (UCD), and Bone Marrow Transplant.

Experienced in Orotic Aciduria Type 1
Dr. Robert L. Talley
Hematology Oncology | Hematology
Experienced in Orotic Aciduria Type 1
Dr. Robert L. Talley
Hematology Oncology | Hematology

Midwest Oncology Associates LLC

2100 Se Blue Pkwy, Lees Summit Medical Center, 
Lee's Summit, MO 
816-282-5000
Languages Spoken:
English
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Accepting New Patients

Robert Talley is a Hematologist Oncology specialist and a Hematologist in Lee's Summit, Missouri. Dr. Talley is rated as an Experienced provider by MediFind in the treatment of Orotic Aciduria Type 1. His top areas of expertise are Pleuropulmonary Blastoma, Essential Thrombocythemia, Thrombocytopenia, and Lynch Syndrome. Dr. Talley is currently accepting new patients.

 
 
 
 
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Experienced in Orotic Aciduria Type 1
Dr. Debra R. Miller
Hematology Oncology | Oncology
Experienced in Orotic Aciduria Type 1
Dr. Debra R. Miller
Hematology Oncology | Oncology

North Atlanta Oncology Services LLC

3855 Pleasant Hill Rd, Suite 480, 
Duluth, GA 
770-623-6433
Languages Spoken:
English, Spanish
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Accepting New Patients

Debra Miller is a Hematologist Oncology specialist and an Oncologist in Duluth, Georgia. Dr. Miller is rated as an Experienced provider by MediFind in the treatment of Orotic Aciduria Type 1. Her top areas of expertise are Paget Disease of the Breast, Breast Cancer, Childhood Iron Deficiency Anemia, and Lung Cancer. Dr. Miller is currently accepting new patients.

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What are the latest Orotic Aciduria Type 1 Clinical Trials?
Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Prospective Study of the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Enrollment Status: Recruiting
Publish Date: September 04, 2025

Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center