Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review

Lysinuric protein intolerance (LPI) is a rare inborn error of metabolism (IEM), classified as an inherited aminoaciduria, caused by mutations in the SLC7A7 gene, leading to a defective cationic amino acid transport. The metabolic adaptations to the demands of pregnancy and delivery cause significant...

Descripción completa

Detalles Bibliográficos
Autores principales: Pané, Adriana, Milad, Camila, Santana-Domínguez, Marta, Baños, Núria, Borras-Novell, Cristina, Espinosa, Gerard, Magnano, Laura, Nomdedeu, Meritxell, Moreno-Lozano, Pedro Juan, Cofan, Frederic, Placeres, Mercè, Fernández, Rosa Maria, García-Villoria, Judit, Garrabou, Glòria, Vinagre, Irene, Tanner, Laura M., Montserrat-Carbonell, Cristina, Forga-Visa, Maria de Talló
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10573933/
https://www.ncbi.nlm.nih.gov/pubmed/37835050
http://dx.doi.org/10.3390/jcm12196405

Ejemplares similares

Ejemplares similares