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 hereditary galactosaemia. Furthermore, Gal-PUT-genotyping in families with rare alleles is essential for safe prenatal diagnosis.
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Christensen, E., Brandt, N.J. Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus. J Inherit Metab Dis 1, 167–169 (1978). https://doi.org/10.1007/BF01805589
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DOI: https://doi.org/10.1007/BF01805589