Background: A high proportion of galactosemia patients appear to have problems of a neuropsychological and/or linguistic nature in spite of dietary treatment. Because the neonatal screening program in Norway does not include galactosemia, we have reexamined Norwegian galactosemics.

Materials/methods: From a known population of 16 patients, 8 patients were able to participate in the study. The age at diagnosis varied between 2 and 11 weeks, while the age at the time of the study was between 9 months and 19 years. All had very low or 0 activity of galactose-1-phosphate uridyl transferase, and 4/8 had some evidence of cataracts at the time of diagnosis. As part of the study all were examined neurologically, and had an age-appropriate developmental/IQ test, an ABR and an EEG, and a comprehensive psycholinguistic evaluation.

Results: The three youngest patients had normal developmental/IQ tests, while the five older patients had IQ scores in or below low range of normal. 7/8 patients had delayed language development, 3 of these were classified as having verbal dyspraxia. Head CTs showed areas of low attenuation in two patients examined in the newborn period, but were normal in others who were examined later. ABR and EEG showed mild pathology in the oldest patient only.

Conclusion: We find evidence of significant developmental and language problems in this unscreened population. In spite of adequate diets, the data suggest that these problems worsen with age. However, there was no relation between functional level and age at diagnosis. This is compatible with data from other countries. It is not clear from the literature whether diagnosis by screening actually changes the prognosis in this disorder.