Beta-ureidopropionase deficiency

Definition:

Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental problems.

References:

[1]. B Assmann, et al. Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics. 2006 Feb;37(1):20-5. [Content Brief]

[2]. J Yaplito-Lee, et al. Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Mol Genet Metab. 2008 Feb;93(2):190-4. [Content Brief]

[3]. William L Nyhan, et al. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. [Content Brief]

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