[Isolation and identification of products of accumulation in Fabry disease].

Three fractions of glycolipids--monohexosylceramide, dihexosylceramide (DHC) and trihexosylceramide (THC) were isolated from kidney of patient with Fabry disease. As compared with normal state amount of DHC and THC was increased in the patient kidney 9-19-fold and 15-26-fold, respectively. Gas liquid chromatography showed that the DHC fraction consisted in digalactosylceramide, while the THC fraction--a mixture of digalactosylglucosylceramide (90%) and trigalactosylceramide (10%). Presence of the latter glycolipid was not early found in human body both in normal state and in Fabry disease. Accumulation of DHC and THC was also detected in urine precipitates of the patients using thin-layer chromatography, whereas these substances were not found in urine of one of the patients daughter, who was heterozygote gene carrier of Fabry disease. The data obtained corroborate the Fabry disease presence, which have been predetermined by means of clinical diagnosis as well as basing on deficiency of alpha-D-galactosidase in blood plasma and leukocytes.