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Arch Dis Child 1999;80:374-376 ( April )

Generalised uridine diphosphate galactose-4-epimerase deficiency

J H Walter,a R E P Roberts,a G T N Besley,a J E Wraith,a M A Cleary,a J B Holton,b R MacFaulc

a Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK, b Department of Child Health, Royal Hospital for Sick Children, Bristol BS1 5PZ, UK, c Pinderfields General Hospital, Wakefield, West Yorkshire WF1 4DG, UK

Correspondence to: Dr Walter. email: john{at}jhwalter.demon.co.uk

Accepted 11 November 1998

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.

Keywords: UDP galactose-4-epimerase deficiency; galactosaemia; transferrin isoelectric focusing

© 1999 by Archives of Disease in Childhood


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