Screening for galactosaemia in Greece.
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.
Schulpis
K
K
Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
Papakonstantinou
E D
ED
Michelakakis
H
H
Podskarbi
T
T
Patsouras
A
A
Shin
Y
Y
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
D005695:Galactosephosphates; C029973:galactose-1-phosphate; D019998:Racemases and Epimerases