Mechanism of Disease
Abstract
A 15-month-old boy presents with global developmental delay, seizures, and recent regression in speech and motor milestones. His seizures are multifocal and refractory to antiseizure medications. Physical exam reveals microcephaly and dystonic posturing. EEG shows multifocal epileptiform discharges. Brain MRI is unremarkable, but magnetic resonance spectroscopy (MRS) reveals a markedly reduced creatine peak. Urine testing shows elevated guanidinoacetate. Which of the following is the most likely etiology?
Fields of Study & Subjects
Metabolism and Genetic Disorders
Epilepsy research and treatment
Genetics and Neurodevelopmental Disorders
Publication details
- Journal / source
- CRC Press eBooks
- Pages
- 1–14
- Publication date
- 10 March 2026
- Language
- EN
- Document type
- Book chapter