ACMG meeting

• February 23rd, 2008

ACMG Annual Clinical Genetics Meeting March 12-16, 2008
Phoenix Convention Center & Hyatt Regency Phoenix Phoenix, Arizona
Philippe

Congenital anomalies in a patient with beta-Ureidopropionase deficiency

• February 3rd, 2008

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
OMMBID Blog Administrator