Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center

Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center

Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin deficiency (BH4D) are not always available in low- or middle-income countries, including Mexico, limiting information regarding the phenotypic...

Full description

Bibliographic Details
Main Authors: M. Vela-Amieva, M. A. Alcántara-Ortigoza, I. Ibarra-González, A. González-del Angel, L. Fernández-Hernández, S. Guillén-López, L. López-Mejía, R. I. Carrillo-Nieto, M. O. Fiesco-Roa, C. Fernández-Lainez
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Genetics
Subjects:
hyperphenylalaninemia
phenylketonuria
6-pyruvoyl-tetrahydropterin synthase
dihydropteridine reductase
pterin-4-alpha-carbinolamine dehydratase
inborn errors of metabolism
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.993612/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.993612/full

Similar Items