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galactosemia 3 (epimerase-deficiency galactosemia)
Genetics:
- defects in GALE are the cause of galactosemia 3
Clinical manifestations:
2 clinically distinct forms
1) a benign, or 'peripheral' form with no detectable GALE activity in red blood cells
2) a much rarer & 'generalized' form with undetectable levels of GALE activity in all tissues examined
Laboratory:
- UDP glucose-4-epimerase in erythrocytes
Related
UDP-glucose 4-epimerase; UDP-galactose 4-epimerase; galactowaldenase (GALE)
General
galactosemia
Database Correlations
OMIM 230350
References
OMIM :accession 604931