Author(s): Prafulla Kumar Dash1, Sagar H. S2
Glutaric aciduria type 1 is an inborn error of metabolism characterised by deficiency or defect of mitochondrial DNA-mediated enzyme, glutaryl-coenzyme A dehydrogenase. Deficiency of glutaryl-coenzyme A dehydrogenase leads to accumulation of glutaric acid in brain which affects operculisation during foetal brain development. Central nervous system is affected early because of its high energy demand. It causes macrocephaly despite significant brain atrophy and has characteristic imaging findings which helps in its diagnosis. It can be treated with suitable dietary supplementation and amino acid restriction, thereby necessitating its early detection. We are presenting a case of Glutaric Aciduria Type 1 in a male child who presented with macrocephaly and movement abnormalities.
Glutaric Aciduria Type 1, Mitochondrial DNA-mediated Enzyme, Macrocephaly