Premium
Screening for galactosaemia in Greece
Author(s) -
Schulpis Kleopatra,
Papakonstantinou Evangelos D.,
Michelakakis Helen,
Podskarbi Theodor,
Patsouras Aristoula,
Shin Yoon
Publication year - 1997
Publication title -
paediatric and perinatal epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.667
H-Index - 88
eISSN - 1365-3016
pISSN - 0269-5022
DOI - 10.1046/j.1365-3016.1997.d01-31.x
Subject(s) - galactosemia , medicine , newborn screening , galactose , compound heterozygosity , pediatrics , heterozygote advantage , disease , mutation , genetics , biochemistry , allele , biology , gene
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 Duarte 2 /heterozygotes for galactosaemia and four with compound 2 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.