Idiopathic hyperglycinemia: Isolation and identification of three previously undescribed urinary ketones

Abstract

An investigation into the identity of the ketones excreted by a patient with hyperglycinemia has led to isolation and identification of significant quantities of 2-butanone (methyl ethyl ketone), and lesser amounts of 2-pentanone, 3-pentanone, acetaldehyde, and a hexanone, tentatively identified as 2-hexanone. In subjects whose ketosis is secondary to starvation, diabetes, or a high fat intake, these substances constitute but a negligible fraction of their daily urinary output of ketones.