Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1

Glutaric aciduria type 1 (GA-1) is a rare autosomal recessive metabolic disorder caused by the deficient activity of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). This leads to the accumulation of neurotoxic metabolites, resulting in basal ganglia injury and neurologic dysfunction. We report a case of a one-and-a-half-year-old Indian male with GA-1 harboring a novel homozygous missense variant in exon 11 of the GCDH gene. The report highlights diagnostic challenges, the significance of genetic testing, and the effect of early intervention in these patients. Prompt recognition remains essential to prevent irreversible neurological sequelae.