Generalised uridine diphosphate galactose-4-epimerase deficiency

The generalised form of epimerase deficiency galactosaemia has been describ ed in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The i nitial presentation was similar to classic galactosaemia. Despite treatment all have shown poor growth and moderate learning difficulties. Three have sensorineural deafness and four have pronounced dysmorphic features, The tw o older female patients have normal pubertal development.