Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

Abstract Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol. Dihydropteridine reductase (DHPR, EC 1.5.1.34) is an enzyme involved in th...

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Bibliographic Details
Main Authors: Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:JIMD Reports
Subjects:
BH4 deficiency
dihydropteridine reductase (DHPR) gene
hyperphenylalaninemia
l‐DOPA
tetrahydrobiopterin
Online Access:https://doi.org/10.1002/jmd2.12224

Internet

https://doi.org/10.1002/jmd2.12224

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