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Generalised uridine diphosphate galactose-4-epimerase deficiency.

J H Walter¹, R E Roberts, G T Besley

¹Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester M27 4HA, UK. john@jhwalter.demon.co.uk

Archives of Disease in Childhood

|March 23, 1999

Summary

Generalised epimerase deficiency galactosaemia is rare, affecting only a few children. Affected individuals experience poor growth, learning difficulties, and developmental issues despite treatment.

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Epimerase deficiency galactosaemia is a rare metabolic disorder.
The generalised form is exceptionally rare, with limited documented cases.

Observation:

This study reports on five children from two families with generalised epimerase deficiency galactosaemia.
Initial symptoms mimicked classic galactosaemia.

Findings:

Despite treatment, all affected children exhibited poor growth and moderate learning difficulties.
Sensorineural deafness was observed in three children, and pronounced dysmorphic features in four.
The two oldest female patients achieved normal pubertal development.

Implications:

This highlights the severe long-term challenges associated with generalised epimerase deficiency galactosaemia.
Early diagnosis and intervention are crucial, though outcomes remain poor.
Further research into management strategies and potential therapies is warranted.