Glutaric Acidemia Type 1

The phenotypic spectrum of untreated glutaric acidemia type 1 (GA1) ranges from severe dystonia due to basal ganglia injury to a variety of other later-onset neurologic manifestations to asymptomatic individuals. The GA1 phenotype can vary widely among untreated family members with the same genotype, primarily as a function of the timing and severity of acute basal ganglia injury. Acute early-onset injury may occur from age three months to three years in infantile-onset GA1 (rarely, up to age six years); more insidious neurologic manifestations may occur after age six years in late-onset GA1. Acute injury manifests as acute bilateral striatal injury and subsequent complex movement disorders. Affected individuals may also develop insidious-onset basal ganglia injury in the absence of an identified acute encephalopathic crisis. Infants identified by newborn screening (NBS) and started on treatment may not develop basal ganglia injury or subsequent movement disorder. Extrastriatal symptoms may occur after age six years including neurologic sequelae such as epilepsy, stroke, and cerebral palsy-like manifestations.

GeneReviews. Jun; Internet]. Seattle (WA): University of Washington, Seattle Bookshelf ID: NBK546575.