Case report
Open access
Aug 2026
Monocarboxylate transporter 1 deficiency: a rare case report and systematic review of genetically confirmed cases
The case of a 5-year-old Egyptian boy with recurrent episodes of ketoacidosis and neurological symptoms, who was confirmed by whole-exome sequencing to have homozygous SLC16A1 pathogenic variants, highlights the diagnostic and therapeutic challenges of MCT1 deficiency.
Y. M. Khalifa, Mohanad Yaser Assem, Ziad Fathi Ahmed et al.
· Annals of Medicine and Surge... · 0 citations