TY - JOUR T1 - Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus. AU - Christensen,E, AU - Brandt,N J, PY - 1978/1/1/pubmed PY - 1978/1/1/medline PY - 1978/1/1/entrez SP - 167 EP - 9 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 1 IS - 4 N2 - 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. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/117252/Prenatal_and_postnatal_diagnostic_difficulties_in_a_family_with_rare_alleles_of_the_galactose_1_phosphate_uridyl_transferase_locus_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1978&volume=1&issue=4&spage=167 DB - PRIME DP - Unbound Medicine ER -