Generalised uridine diphosphate galactose-4-epimerase deficiency
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.
© 1999 by Archives of Disease in Childhood
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