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Dihydropyrimidinase Deficiency

mutation in DYPS

Also Known As:

DPH Deficiency; DPYS Deficiency

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Dihydropyrimidinase Deficiency: 9
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Dihydropyrimidinase Deficiency: 9

Related Diseases

1.	Dihydropyrimidine Dehydrogenase Deficiency

Experts

1.	Nakajima, Yoko: 2 articles (03/2019 - 12/2017)
2.	Meinsma, Rutger: 2 articles (12/2017 - 10/2003)
3.	Zoetekouw, Lida: 2 articles (12/2017 - 10/2003)
4.	van Kuilenburg, André B P: 2 articles (12/2017 - 10/2003)
5.	van Kuilenburg, A B P: 2 articles (06/2008 - 10/2004)
6.	Akiyama, Tomoyuki: 1 article (03/2019)
7.	Kato, Takema: 1 article (03/2019)
8.	Kobayashi, Katsuhiro: 1 article (03/2019)
9.	Kuhara, Tomiko: 1 article (03/2019)
10.	Kurahashi, Hiroki: 1 article (03/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dihydropyrimidinase Deficiency:

1.	pyrimidineIBA 03/01/2019 - "Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. " 07/05/2001 - "Inborn errors of pyrimidine degradation, dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency, are less rare than has generally been assumed. " 05/01/2006 - "This method will be useful not only for thymidine level follow-up during dialysis in MNGIE patients but also for the improvement of the diagnosis or diagnostic suspect in other pyrimidine defects such as dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinase deficiency and ureidopropionase deficiency."
2.	Fluorouracil (Carac)FDA LinkGeneric 10/01/2004 - "A partial dihydropyrimidinase deficiency proved to be a novel pharmacogenetic disorder associated with severe 5FU toxicity." 10/01/2003 - "Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity."
3.	beta-AlanineIBA 06/01/2008 - "Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency."
4.	ThymidineIBA 05/01/2006 - "This method will be useful not only for thymidine level follow-up during dialysis in MNGIE patients but also for the improvement of the diagnosis or diagnostic suspect in other pyrimidine defects such as dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinase deficiency and ureidopropionase deficiency."
5.	Proteins (Proteins, Gene)FDA Link 12/01/2017 - "Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity."
6.	EnzymesIBA 07/01/1997 - "Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria."
7.	3-aminoisobutyric acidIBA 06/01/2008 - "Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency."
8.	dihydropyrimidinaseIBA 09/01/1998 - "Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene."