title: Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.
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.
  
  
  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.
authors.affiliation: 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary. ilona.milankovics@hotmail.com
authors.forename: Ilona
authors.initials: I
authors.lastname: Milánkovics
authors.forename: Agnes
authors.initials: A
authors.lastname: Schuler
authors.forename: Eniko
authors.initials: E
authors.lastname: Kámory
authors.forename: Béla
authors.initials: B
authors.lastname: Csókay
authors.forename: Flóra
authors.initials: F
authors.lastname: Fodor
authors.forename: Csilla
authors.initials: C
authors.lastname: Somogyi
authors.forename: Krisztina
authors.initials: K
authors.lastname: Németh
authors.forename: György
authors.initials: G
authors.lastname: Fekete
mesh_terms: D005260:Female; D005693:Galactosemias / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase