The deficiency of glutaryl coenzyme A dehydrogenase (GCDH) activity in Glutaric acidemia type I (GA-1) patients leads to the blockage of the catabolism of lysine and other amino acids, resulting in the abnormal accumulation of metabolites such as glutaric acid in the body, which causes damage to the central nervous system.

At the time of acute onset of GA-I, catabolic stress can occur, which is easy to induce acute injury, and acute encephalopathy crisis occurs, resulting in bilateral striatal damage, which in turn leads to neurological impairment and dystonia, with high disability and mortality. Structural changes in brain development occur in asymptomatic patients, including macrocephaly, hypoplasia or atrophy of the temporal and frontal lobes, and occult damage occurs in patients who are detected by neonatal screening and treated, and patients develop fine dyskinesias and speech deficits. Over time, these changes may result in significant neurological loss and can potentially lead to death.