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Beta-Ureidopropionase Deficiency

mutation in UPB1

Networked: 5 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ornithine Carbamoyltransferase Deficiency Disease
2.	Phenylketonurias (Phenylketonuria)

Experts

1.	Assmann, B: 2 articles (12/2001 - 01/2000)
2.	Hoffmann, G F: 2 articles (12/2001 - 01/2000)
3.	Chan, Bosco: 1 article (02/2015)
4.	Chan, Kwok-Yin: 1 article (02/2015)
5.	Lai, Chi-Kong: 1 article (02/2015)
6.	Lam, Ching-Wan: 1 article (02/2015)
7.	Law, Chun-Yiu: 1 article (02/2015)
8.	Leung, Ka-Fei: 1 article (02/2015)
9.	Mak, Chloe Miu: 1 article (02/2015)
10.	Pak-lam Chen, Sammy: 1 article (02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Beta-Ureidopropionase Deficiency:

1.	beta-AlanineIBA 11/15/2004 - "In this study, we report the elucidation of the genetic basis underlying a beta-ureidopropionase deficiency in four patients presenting with neurological abnormalities and strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. " 11/15/2004 - "beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. "
2.	3-aminoisobutyric acidIBA 11/15/2004 - "Furthermore, an altered homeostasis of beta-aminoisobutyric acid and/or increased oxidative stress might contribute to some of the clinical abnormalities encountered in patients with a beta-ureidopropionase deficiency. " 11/15/2004 - "In this study, we report the elucidation of the genetic basis underlying a beta-ureidopropionase deficiency in four patients presenting with neurological abnormalities and strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine. " 11/15/2004 - "beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. "
3.	EnzymesIBA 12/01/2001 - "Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level." 01/01/2000 - "Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. "
4.	pyrimidineIBA 02/02/2015 - "Beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism. " 11/15/2004 - "beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities." 11/15/2004 - "beta-Ureidopropionase deficiency is an inborn error of the pyrimidine degradation pathway, affecting the cleavage of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid. "
5.	Ligases (Synthetase)IBA 08/01/2007 - "In this review, chemical diagnoses of hyperphenylalaninemia, phenylketonuria, hyperprolinemia, and lactic acidemia, and the differential diagnosis of beta-ureidopropionase deficiency and primary hyperammonemias including ornithine transcarbamylase deficiency and carbamoylphosphate synthetase deficiency are described."