Glutaric aciduria; A “new” disorder of amino acid metabolism

Abstract

Studies are reported on two siblings with a neurodegenerative disorder, glutaric aciduria and glutaric acidemia. The glutaric aciduria was increased by oral administration of l-lysine, which is metabolized through glutaryl-CoA, and decreased by lowering protein intake. The metabolism of [1,5- 14C] glutaryl-CoA was deficient in the peripheral leukocytes of the patients. The results are compatible with an inherited deficiency of glutaryl-CoA dehydrogenase. It is speculated, but not proved, that the biochemical abnormality is causally related to the central nervous system dysfunction.