The gas-chromatographic diagnosis of intermittent maple syrup urine disease (branch-chain ketoaciduria)

Abstract A family with intermittent maple syrup urine disease has been identified using a screening procedure developed for organic acidurias. The three branch-chain α-keto acids accumulating in this condition were identified, after steam distillation of the urine, by gas-chromatography as their free acids on a neopentyl-glycoladipate-phosphoric acid column. The demonstration that α-keto acids will steam distill and Chromatograph on this column extends the usefulness of published screening procedures using this technique.