Neurological manifestations in glutaric acidemia type 1 and the impact of expanded neonatal screening in Brazil

Glutaric acidemia type 1 (GA1) is an inborn error of metabolism caused by the deficiency enzyme glutaryl-CoA dehydrogenase, with consequent accumulation aminoacids lysine, hydroxylsine and tryptophan. About in every 100,000 individuals are affected disease. Neurological manifestations variable include acute chronic encephalopathic crises, dystonia, motor cognitive deficits, as well neuroimaging findings such brain hypoplasia, striatal, white matter subdural effusions. Early diagnosis crucial for specific therapy, which includes a diet restricted amino acids carnitine replacement. The present work describes variability neurological four patients glutaric 1, diagnosed different age groups, through mass spectrometry, technology expanded neonatal screening available Ministry Health program Federal District, Brazil. Complications GA1 were more severe cases later diagnosis, justifies use enlarged important resource early treatment errors metabolism.