Molecular and clinical analysis of patients with classic and Duarte galactosemia in Western Hungary

Ilona Milánkovics, Ágnes Schuler, Enikö Kámory, Béla Csókay, Flóra Fodor, Csilla Somogyi, Krisztina Németh, György Fekete

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7 Citations (Scopus)

Abstract

Background: Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in Hungary the national screening program was launched in 1976 with two screening centers. The aim of this study was the molecular characterization of the genotypes and analysis of genotype-phenotype correlation among patients with classic or variant galactosemia. Patients and methods: DNA samples from 40 patients were analyzed by polymerase chain reaction followed by direct sequencing. Results: 16 different sequence variations were identified, including two novel missense mutations (p.S297P, p.E146D). The two most common mutations were p. Q188R and p.K285N with allele frequencies of 45% and 31.2%, respectively. Clinical data were evaluated with respect to the genotypes found. Conclusions: The most serious clinical phenotypes in our population were associated with mutations p. Q188R, p.K285N, p.X380R, p.S297P, p.M142K, p.R.204X, p.Q169K and p.R407P, but manifestations depend on other genetic and environmental factors.

Original languageEnglish
Pages (from-to)95-102
Number of pages8
JournalWiener Klinische Wochenschrift
Volume122
Issue number3-4
DOIs
Publication statusPublished - Feb 1 2010

Keywords

  • Classic galactosemia
  • Duarte
  • GALT
  • Galactose-1- phosphate uridyltransferase
  • Newborn screening

ASJC Scopus subject areas

  • Medicine(all)

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    Milánkovics, I., Schuler, Á., Kámory, E., Csókay, B., Fodor, F., Somogyi, C., Németh, K., & Fekete, G. (2010). Molecular and clinical analysis of patients with classic and Duarte galactosemia in Western Hungary. Wiener Klinische Wochenschrift, 122(3-4), 95-102. https://doi.org/10.1007/s00508-010-1311-7