Propionic acidemia in Mexico: Clinical and genotypic spectrum
= 7/32 alleles, 21.9%), respectively. Predominance of neonatal onset, severe neurological sequelae, and high mortality rate emphasize that PA should be considered for inclusion in the Mexican NBS program. Until PA screening is routinely performed at birth in Mexico, efforts are needed to increase pediatricians' awareness of the clinical picture, to support early detection and prompt management.
Authors
- L. Fernandez-Hernandez
- Gabriel López‐Velázquez (ORCID: https://orcid.org/0000-0003-0470-1069)
- C. Fernández-Lainez
- I. Ibarra-González
- L. López-Mejía
- M. Reyna-Fabián
- S. Guillén-López
- M.A. Alcántara-Ortigoza
- A. González-del Ángel
- D. Mancera-Hernández
- M. Vela-Amieva
- S. Enríquez-Flores
Institutions
- Instituto Nacional de Investigaciones Nucleares (MX)
- Secretaria de Salud (MX)
- Instituto Nacional de Pediatria (MX)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2026-04-15
- DOI
- https://doi.org/10.1016/j.ymgmr.2026.101311
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Instituto Nacional de Pediatria
- Secretaría de Salud