Congenital anomalies in a patient with beta-Ureidopropionase deficiency

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Mol Genet Metab. 2008 Feb;93(2):190-194. Epub 2007 Oct 26.

beta-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.

Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB.
In this article, the authors describe dysmorphisms associated with an inborn error of metabolism of thymine and uracil degradation. The 5 previously described patients with a deficiency of beta-ureidopropionase had neurological and neuromuscular findings only. The patient they describe has normal neurological findings, and additional malformations which could be related, or not, to the inborn error of metabolism. No congenital malformations have previously been associated with inborn errors of the metabolism of purines and pyrimidines. 
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
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