Galactosemia in Norway
Hansen, T.W.; Helland, G.F.; Lund, O.; Spangen, S.; Torgner, I.
Tidsskrift for den Norske Laegeforening Tidsskrift for Praktisk Medicin Ny Raekke 107(27): 2325-2328
1987
ISSN/ISBN: 0029-2001 PMID: 3445241 Document Number: 299173
From 1969 to 1986 galactosaemia was diagnosed in ten Norwegian infants (1:96000 live births). Galactosaemia is not included in the newborn screening programme in Norway, so all were diagnosed on clincial criteria, and were found to have galactose-1-phosphate uridyl transferase deficiency. The histories of the six patients born between June 1976 and June 1986 were examined retrospectively. Jaundice in the first week of life was the presenting sign in five of the patients, while the sixth presented with vomiting on the fourth day of life. Five of six patients had postnatal weight loss of 12-18%. In spite of classical symptomatology in all the patients, the diagnosis was made only after the second week of life in three. At the time of this study none of the children with a delayed diagnosis exhibited definite sequelae. The benefits of including galactosamia in our newborn screening programme would appear to be limited. However, diagnostic awareness needs to be increased in those who diagnose and treat newborns.