Beta-ureidopropionase deficiency

Common Name(s)

Beta-ureidopropionase deficiency

Beta-ureidopropionase deficiency is a rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development ({4:Yaplito-Lee et al., 2008}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Beta-ureidopropionase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Beta-ureidopropionase deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
 

Author(s): Yoko Nakajima, Judith Meijer, Doreen Dobritzsch, Tetsuya Ito, Rutger Meinsma, Nico G G M Abeling, Jeroen Roelofsen, Lida Zoetekouw, Yoriko Watanabe, Kyoko Tashiro, Tomoko Lee, Yasuhiro Takeshima, Hiroshi Mitsubuchi, Akira Yoneyama, Kazuhide Ohta, Kaoru Eto, Kayoko Saito, Tomiko Kuhara, André B P van Kuilenburg

Journal: J. Inherit. Metab. Dis.. 2014 Sep;37(5):801-12.

 

β-ureidopropionase (βUP) deficiency is an autosomal recessive disease characterized by N-carbamyl-β-amino aciduria. To date, only 16 genetically confirmed patients with βUP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 ...

Last Updated: 9 Sep 2014

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Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
 

Author(s): Birgit E Assmann, Andre B P Van Kuilenburg, Felix Distelmaier, Nico G G M Abeling, Thorsten Rosenbaum, Jörg Schaper, Marinus Duran, Ertan Mayatepek

Journal: Epilepsia. 2006 Jan;47(1):215-7.

 

Beta-ureidopropionase is the third enzyme in the catabolic pathway of uracil and thymine. To date, only three other patients are reported with this inborn error of metabolism. We report the clinical presentation of a male patient who presented at the age of 4 months after an ALTE-like ...

Last Updated: 18 Jan 2006

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beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urine.
 

Author(s): S H Moolenaar, G Göhlich-Ratmann, U F Engelke, M Spraul, E Humpfer, P Dvortsak, T Voit, G F Hoffmann, C Bräutigam, A B van Kuilenburg, A van Gennip, P Vreken, R A Wevers

Journal: Magn Reson Med. 2001 Nov;46(5):1014-7.

 

In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, beta-ureidopropionase (UP) deficiency, are reported. 1D (1)H-NMR experiments were performed using a patient's urine. 3-Ureidopropionic acid was observed in elevated concentrations in the ...

Last Updated: 24 Oct 2001

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Reviews from the PubMed Database

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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