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]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

お名前
メール *

	Sorry, but the email address you supplied was invalid.