Article
An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.
Genes - 23 Oct 2021
Vela-Amieva Marcela, Alcántara-Ortigoza Miguel Angel, Ibarra-González Isabel, González-Del Angel Ariadna, Fernández-Hernández Liliana, Guillén-López Sara, López-Mejía Lizbeth, Carrillo-Nieto Rosa Itzel, Belmont-Martínez Leticia, Fernández-Lainez Cynthia
Abstract excerpt
Establishing the genotypes of patients with hyperphenylalaninemia (HPA)/phenylketonuria (PKU, MIM#261600) has been considered a cornerstone for rational medical management. However, knowledge of the phenylalanine hydroxylase gene (PAH) mutational spectrum in Latin American populations is still limited. Herein, we aim to update the mutational PAH spectrum in the largest cohort of HPA/PKU Mexican patients (N = 124)...
Topics
- Amino Acid Substitution
- Catalytic Domain
- Female
- Genotyping Techniques
- Humans
- Infant, Newborn
- Loss of Function Mutation
- Male
- Mexico
- Models, Molecular