Genfrequenz der heredit�ren Galaktos�mie unter Ber�cksichtigung der Duarte-Variante

✍ Scribed by Kaloud, Herbert ;Sitzmann, Freidrich Carl

• Publisher: Springer-Verlag
• Year: 1972
• Weight: 584 KB
• Volume: 113
• Category: Article
• ISSN: 0044-2917
• DOI: 10.1007/bf00464624

✦ Synopsis

A total of 1793 normal children and adults were examined for galactose-l-phosphate uridyl transferase deficiency. A quantitative enzyme assay (UDPG-consumption test) had been carried out on all samples. In this population, 931 subjects lived in the Graz (St) area and 862 in the region of Erlangen (E). In the first group (St) we ibund 17 carriers of galactosemia (incidence of gene: 0.0092) and in the second group (E) there were 10 heterozygotes for galactosemia (incidence of gene: 0.0059). The frequency of hereditary galactosemia is therefore in the order of 1:12000 (St) and 1:29 000 (E) live births. Another type of transferase deficiency is known, the Duarte Variant (GTD). Subjects who are homozygous for the Duarte Variant have approximately half the normal enzyme activity, heterozygotes threequarters, tteterozygotes for this gene were much more common: in the first group 11.38% and in the second 13.48~ (incidence of gene: 0.056 (St) and 0.067 (E)). In addition, two patients heterozygous for both the Duarte Variant and the gene for galactosemia were found (GtD/gt) in each group, these subjects have approximately one quarter of the normal enzyme activity. Thus it appears the prevalence of galactosemia in these two regions is the same as was found by Beutler in California and Thalhamm~r in Vienna. Often infants with galactosemia die with icterus gravis or sepsis in the neonatal period. Galactesemia should be considered in the differential diagnosis in any gravely ill infant.