BACKGROUND Metabolic stroke is the rapid onset of lasting central neurological deficit associated with decompensation of an underlying metabolic disorder. Glutaric aciduria type I (GA1) is an inherited disorder of lysine and tryptophan metabolism presenting with metabolic stroke in infancy. The clinical presentation includes bilateral striatal necrosis and spontaneous subdural and retinal hemor...

In glutaric aciduria type 1 (GA1), glutaryl-CoA dehydrogenase (GCDH) deficiency has been shown to be responsible for the accumulation of glutaric acid and striatal degeneration. However, the mechanisms by which GA1 induces striatal degeneration remain unclear. In this study, we aimed to establish a novel neuronal model of GA1 and to investigate the effects of GCDH deficiency and lysine-related ...

PURPOSE Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme deficiency. Children with GA1 are reported to be predisposed to subdural hematoma (SDH) development due to stretching of cortical veins secondary to cerebral atrophy and expansion of CSF spaces. Therefore, GA1 testing is part of the routine work-up in abusive head trauma (AHT). This systemat...

In most developed countries, neonatal mass screening programs for the early diagnosis of inborn errors of metabolism (IEM) have been implemented and have been found to be effective for the prevention or significant reduction of clinical symptoms such as mental retardation. These programs rely primarily on simple bacterial inhibition assays (the "Guthrie tests"). We developed a new method for sc...