Generalised uridine diphosphate galactose-4-epimerase deficiency

Arch Dis Child. 1999 Apr;80(4):374-6. doi: 10.1136/adc.80.4.374.


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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Galactosemias / complications
  • Galactosemias / enzymology*
  • Galactosemias / genetics
  • Growth Disorders / etiology
  • Humans
  • Learning Disabilities / etiology
  • Male
  • Prognosis
  • UDPglucose 4-Epimerase / deficiency*


  • UDPglucose 4-Epimerase