Seizure and Neurodevelopmental Regression in Inherited N-Acetyl Glutamate Synthase Deficiency (NAGSD): A Case Series From Neuroimaging to Genome Sequencing
Published online on April 25, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
BackgroundInherited hyperammonemia is a challenging disorder to diagnose. Various enzymes can be mutated in the urea cycle, but NAGSD is the rarest one. In this case series, we report 2 siblings with a neurometabolic disorder and their neuroimaging ...
BackgroundInherited hyperammonemia is a challenging disorder to diagnose. Various enzymes can be mutated in the urea cycle, but NAGSD is the rarest one. In this case series, we report 2 siblings with a neurometabolic disorder and their neuroimaging ...