Generalised uridine diphosphate galactose-4-epimerase deficiency. Issue 4 (1st April 1999)

• Record Type: Journal Article
• Authors: Walter, J H; Roberts, R E P; Besley, G T N; Wraith, J E; Cleary, M A; Holton, J B; MacFaul, R
• Is Part Of: Archives of disease in childhood. Volume 80:Issue 4(1999)
• Page Start: 374
• Page End: 376
• Publication Date: 1999-04-01
• Subjects: UDP galactose-4-epimerase deficiency -- galactosaemia -- transferrin isoelectric focusing; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.80.4.374
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial 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 two older female patients have normal pubertal development.