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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
Elite in Orotic Aciduria Type 1
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.

Advanced in Orotic Aciduria Type 1
Hematology | Oncology
Advanced in Orotic Aciduria Type 1
Hematology | Oncology

Tennessee Cancer Specialists

1301 Sunset Dr, Ste 3, 
Johnson City, TN 
Languages Spoken:
English
Offers Telehealth

. Dr. Patel is rated as an Advanced provider by MediFind in the treatment of Orotic Aciduria Type 1. His top areas of expertise are Penile Cancer, Hemochromatosis, Non-Hodgkin Lymphoma, and Acute Mountain Sickness.

 
 
 
 
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Advanced in Orotic Aciduria Type 1
Internal Medicine
Advanced in Orotic Aciduria Type 1
Internal Medicine

Tennessee Cancer Specialists

1301 Sunset Dr, Ste 3, 
Johnson City, TN 
Languages Spoken:
English
Offers Telehealth

. Dr. Tumkur is rated as an Advanced provider by MediFind in the treatment of Orotic Aciduria Type 1. His top areas of expertise are Familial Colorectal Cancer, Colorectal Cancer, Acute Mountain Sickness, and Anemia.

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

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