title: Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus.
abstract: Whole-blood galactose-1-phosphate uridyl transferase (Gal-PUT) (EC 2.7.7.12) activity was absent in a newborn boy with galactosaemic symptoms. The symptoms disappeared on a galactose free diet. In the next pregnancy prenatal diagnosis was performed. Gal-PUT activity was measured by isotope technique and Gal-PUT genotype was determined by gel electrophoresis. The mother was shown to be heterozygous Duarte/heterozygous Los Angeles, the father heterozygous Duarte/heterozygous galactosaemia. The fetus had the same genotype as the father. A normal girl without galactosaemic symptoms was born. Reinvestigation of the index case showed that he was also heterozygous Duarte/heterozygous galactosaemia. It is concluded that the activity of Gal-PUT should always be measured by isotope technique to prove the diagnosis of heteditary galactosaemia. Furthermore, Gal-PUT-genotyping in families with rare alleles is essential for safe prenatal diagnosis.
mesh_terms: D000483:Alleles; D000653:Amniotic Fluid / Q000201:enzymology; D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000201:enzymology; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D008297:Male; D009713:Nucleotidyltransferases / Q000172:deficiency*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000201:enzymology; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency* / Q000235:genetics
chemical_list: D009713:Nucleotidyltransferases; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase