Glutaric Acidemia Type I

Glutaric acidemia type I is an autosomal recessive metabolic disorder caused by mutations in the GCDH gene, resulting in deficiency of glutaryl-CoA dehydrogenase. Neurologic manifestations include dystonia, spasticity, macrocephaly, and acute encephalopathic crises. Pathophysiology involves accumulation of neurotoxic metabolites causing basal ganglia injury. Diagnosis is established through urine organic acid analysis, enzyme assay, and genetic testing. Management includes dietary restriction of lysine and tryptophan, carnitine supplementation, and supportive care; prognosis improves with early diagnosis and metabolic control.