Arch Dis Child. 1999 Apr;80(4):374-6.

Generalised uridine diphosphate galactose-4-epimerase deficiency.

Walter JH, Roberts RE, Besley GT, Wraith JE, Cleary MA, Holton JB, MacFaul R.

Source

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK. john@jhwalter.demon.co.uk

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.

PMID:: 10086948; [PubMed - indexed for MEDLINE]
PMCID:: PMC1717903

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UDPglucose 4-Epimerase

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