In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening

• Main Authors: Marcela Vela-Amieva (Author), Miguel Angel Alcántara-Ortigoza (Author), Ariadna González-del Angel (Author), Isabel Ibarra-González (Author), Liliana Fernández-Hernández (Author), Sara Guillén-López (Author), Lizbeth López-Mejía (Author), Cynthia Fernández-Lainez (Author)
• Format: Book
• Published: MDPI AG, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neurological impairments when phenylalanine (Phe) blood...