Uridine diphosphate galactose 4-epimerase deficiency.
A case of uridine diphosphate galactose (UDP-Gal) 4-epimerase deficiency was discovered by mass screening of newborn infants. UDP-Gal 4-epimerase activity of red blood cells from the patient was found to be remarkably low, i.e., 7.5% of the level in normal controls at comparable ages. The parents showed intermediate values between those of the patient and controls. The enzyme activity in a specimen of liver tissue obtained from the patient by needle biopsy revealed a normal value. Subsequently, two other families with the condition were found by mass screening and these individuals were found to be heterozygotes.
D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007223:Infant; D007564:Japan; D008099:Liver / Q000201:enzymology; D008297:Male; D008403:Mass Screening; D010375:Pedigree; D014534:UDPglucose 4-Epimerase / Q000172:deficiency*
D002238:Carbohydrate Epimerases; D014534:UDPglucose 4-Epimerase