The Isolation and Identification of Galactitol from the Brains of Galactosemia Patients

Abstract

The presence of acyclic polyols in mammalian tissue was formerly considered a rare finding confined to specialized tissue (I). Van Heyningen reported the occurrence of significant quantities of galactitol in the lens of galactose-fed rats, although only minor amount,s of the hexitol were located in the heart and leg muscle (2). Other tissues which were examined, blood, liver, spleen, lung, and kidney, contained no detectable amounts of galactitol. Recently, however, galactitol was isolated from the urine of two’ male, galactosemia patients (3). By utilizing the convenient and sensitive technique of gas-liquid chromatography (4, 5) for the analysis of the urine and lens of rats fed a 35% galactose-containing diet, we have confirmed the ability of normal rats to convert significant amounts of galactose to galactitol.2 In addition, however, these studies led to the detection of large amounts of free galactitol in brain and kidney tissue. It therefore became of interest to examine organs of galactosemia subjects for possible deposition of galactitol. This report describes the analysis and isolation of galactitol from the brains of two galactosemia patients.