UDP-GLUCOSE AND UDP-GALACTOSE CONCENTRATIONS IN CULTURED SKIN FIBROBLASTS OF PATIENTS WITH CLASSICAL GALACTOSEMIA

A very clear-cut reduction in UDP-galactose (UDPGal) levels in erythro cytes, skin fibroblasts and liver of patients with classical galactosa emia has been reported. As UDPGal is the galactosyl donor in glycoprot ein and glycolipid synthesis, it has been suggested that an abnormalit y in these complex compounds may be the cause of some of the long-term complications of the disease. More recent work on erythrocytes, emplo ying mainly HPLC rather than the enzyme methods used to measure UDPGal originally, casts doubt on the hypothesis because, although some redu ction was still found, there was a large overlap between galactosaemic and normal distributions. We have reproduced the experiments on cultu red skin fibroblasts at confluency, but measuring UDPGal and UDP-gluco se (UDPGlc) by HPLC. There was no reduction in UDPGal levels in galact osaemic compared to control cell lines. The existence of a biologicall y significant depletion of UDPGal in galactosaemia remains in doubt.