Generalised uridine diphosphate galactose-4-epimerase deficiency.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10086948.
- Also identified by PMC identifier 1717903.
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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.
Medical subject headings
- Galactosemias
- UDPglucose 4-Epimerase