title: Screening for galactosaemia in Greece.
abstract: Galactosaemia appears to be one of the most appropriate disorders for routine newborn screening as almost normal outcome can be achieved in most of the identified cases. Galactose and galactose-1-phosphate were determined using Guthrie cards in a commercial kit based on a colorimetric microassay. Among 199,642 newborns, nine cases with classic galactosaemia, three with epimerase deficiency, six with compound Duarte2/heterozygotes for galactosaemia and four with compound2 Duarte homozygosity were found. Even though the number found among the screened neonates is small because it is such a rare disease, our results indicate one of the highest frequencies of the disease ever reported.
authors.affiliation: Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: K
authors.initials: K
authors.lastname: Schulpis
authors.forename: E D
authors.initials: ED
authors.lastname: Papakonstantinou
authors.forename: H
authors.initials: H
authors.lastname: Michelakakis
authors.forename: T
authors.initials: T
authors.lastname: Podskarbi
authors.forename: A
authors.initials: A
authors.lastname: Patsouras
authors.forename: Y
authors.initials: Y
authors.lastname: Shin
mesh_terms: D000367:Age Factors; D003124:Colorimetry; D005693:Galactosemias / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*; D005695:Galactosephosphates / Q000097:blood; D006115:Greece; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D019998:Racemases and Epimerases / Q000172:deficiency
chemical_list: D005695:Galactosephosphates; C029973:galactose-1-phosphate; D019998:Racemases and Epimerases