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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?
Experienced in Orotic Aciduria Type 1
Internal Medicine
Experienced in Orotic Aciduria Type 1
Internal Medicine

Richard M Butlig MD Inc.

1727 Crenshaw Blvd, 
Torrance, CA 
 (8.8 mi)
Languages Spoken:
English
Offers Telehealth

Richard Butlig is an Internal Medicine provider in Torrance, California. Dr. Butlig and is rated as an Experienced provider by MediFind in the treatment of Orotic Aciduria Type 1. His top areas of expertise are Hypertensive Heart Disease, Enlarged Liver, Pediatric Myocarditis, and Peptic Ulcer.

Advanced in Orotic Aciduria Type 1
Medical Genetics | Pediatrics
Advanced in Orotic Aciduria Type 1
Medical Genetics | Pediatrics
4760 W Sunset Blvd, 
Los Angeles, CA 
 (23.4 mi)
Experience:
40+ years
Languages Spoken:
English

George Tiller is a Medical Genetics specialist and a Pediatrics provider in Los Angeles, California. Dr. Tiller has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of Orotic Aciduria Type 1. His top areas of expertise are Orotic Aciduria Type 1, BRCA Positive Breast Cancer, Urea Cycle Disorders (UCD), and Hypotonia.

 
 
 
 
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Gary J. Schiller
Experienced in Orotic Aciduria Type 1
Hematology Oncology | Hematology | Oncology
Experienced in Orotic Aciduria Type 1
Hematology Oncology | Hematology | Oncology

The Regents Of The University Of California

900 Weyburn Place, Suite 14 171, 
Los Angeles, CA 
 (25.0 mi)
Languages Spoken:
English
Offers Telehealth

Gary Schiller is a Hematologist Oncology specialist and a Hematologist in Los Angeles, California. Dr. Schiller and is rated as an Experienced provider by MediFind in the treatment of Orotic Aciduria Type 1. His top areas of expertise are Acute Myeloid Leukemia (AML), Leukemia, Multiple Myeloma, Bone Marrow Transplant, and Bone Marrow Aspiration.

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