Generalised uridine diphosphate galactose-4-epimerase deficiency
JH Walter, REP Roberts, GTN Besley… - Archives of disease in …, 1999 - adc.bmj.com
JH Walter, REP Roberts, GTN Besley, JE Wraith, MA Cleary, JB Holton, R MacFaul
Archives of disease in childhood, 1999•adc.bmj.comThe 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.
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.
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.
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