Orotic aciduria hereditary

Common Name(s)

Orotic aciduria hereditary, Orotic aciduria

Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by {25:Webster et al., 2001}). {1:Bailey (2009)} reported that to that time, 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Orotic aciduria hereditary" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Orotic aciduria hereditary" returned 5 free, full-text research articles on human participants. First 3 results:

Hereditary orotic aciduria heterozygotes accompanied with neurological symptoms.
 

Author(s): M Imaeda, S Sumi, H Imaeda, M Suchi, K Kidouchi, H Togari, Y Wada

Journal: Tohoku J. Exp. Med.. 1998 May;185(1):67-70.

 

We report a family with hereditary orotic aciduria heterozygotes. A 3-year-old boy who had been diagnosed as having cerebral palsy and mental retardation presented himself with an increase in excretion of urinary orotic acid. Enzymatic studies revealed that the boy and his healthy ...

Last Updated: 5 Oct 1998

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Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
 

Author(s): M Suchi, H Mizuno, Y Kawai, T Tsuboi, S Sumi, K Okajima, M E Hodgson, H Ogawa, Y Wada

Journal: Am. J. Hum. Genet.. 1997 Mar;60(3):525-39.

 

Uridine monophosphate (UMP) synthase is a bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT) and orotidine-5'-monophosphate decarboxylase (ODC). Loss of either enzymatic activity results in hereditary orotic ...

Last Updated: 18 Mar 1997

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Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts.
 

Author(s): J K Winkler, D P Suttle

Journal: Am. J. Hum. Genet.. 1988 Jul;43(1):86-94.

 

Hereditary orotic aciduria is an autosomal recessive disease in which there is a severe deficiency in the activity of the de novo pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. UMP synthase is a bifunctional enzyme containing the two activities orotate phosphoribosyltransferase ...

Last Updated: 11 Jul 1988

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Reviews from the PubMed Database

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The terms "Orotic aciduria hereditary" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria
 

Status: Recruiting

Condition Summary: Hereditary Orotic Aciduria

 

Last Updated: 15 Jul 2014

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