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.
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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?
Distinguished
Highly rated in
1
conditions

University Of Foggia

Department Of Biomedical Sciences 
Foggia, IT 

Oceania D'apolito is in Foggia, Italy. D'apolito is rated as a Distinguished expert by MediFind in the treatment of Orotic Aciduria Type 1. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Orotic Aciduria Type 1, Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, and Polydactyly.

Distinguished
Highly rated in
13
conditions

University College London

Genetics And Genomic Medicine 
London, ENG, GB WC1N1

Philippa Mills is in London, United Kingdom. Mills is rated as a Distinguished expert by MediFind in the treatment of Orotic Aciduria Type 1. She is also highly rated in 13 other conditions, according to our data. Her top areas of expertise are Pyridoxine Deficiency, Orotic Aciduria Type 1, Optic Nerve Atrophy, and Argininosuccinic Aciduria.

 
 
 
 
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Distinguished
Highly rated in
39
conditions
Hematology Oncology
Oncology

BayCare Health System

North Mcmullen Booth Road Location

3280 N Mcmullen Booth Rd 
Clearwater, FL 33761

Jose Alemar is a Hematologist Oncology specialist and an Oncologist in Clearwater, Florida. Dr. Alemar has been practicing medicine for over 23 years and is rated as a Distinguished doctor by MediFind in the treatment of Orotic Aciduria Type 1. He is also highly rated in 39 other conditions, according to our data. His top areas of expertise are Orotic Aciduria Type 1, Breast Cancer, Paget Disease of the Breast, and Transient Erythroblastopenia of Childhood. He is licensed to treat patients in Florida. Dr. Alemar is currently accepting new patients.

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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

What are the Latest Advances for Orotic Aciduria Type 1?

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