Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report

BACKGROUND: Microcephaly, epilepsy, and diabetes syndrome (MEDS) is a rare syndromic form of monogenic diabetes caused by bi-allelic loss of function mutations in IER3IP1. In vitro studies have shown that loss of IER31P leads to apoptosis in both neurons and pancreatic β-cells. Simultaneous manageme...

Descripción completa

Detalles Bibliográficos
Autores principales: Zegarra, Walter A., Gallentine, William B., Ruzhnikov, Maura R., McAndrews, Catherine A., Gloyn, Anna L., Addala, Ananta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492392/
https://www.ncbi.nlm.nih.gov/pubmed/37689631
http://dx.doi.org/10.1186/s12887-023-04272-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492392/
https://www.ncbi.nlm.nih.gov/pubmed/37689631
http://dx.doi.org/10.1186/s12887-023-04272-y

Ejemplares similares