galactosemia 3 (epimerase-deficiency galactosemia)

Genetics

• defects in GALE are the cause of galactosemia 3

Clinical manifestations

2 clinically distinct forms

• a benign, or 'peripheral' form with no detectable GALE activity in red blood cells
• a much rarer & 'generalized' form with undetectable levels of GALE activity in all tissues examined

Laboratory

• UDP glucose-4-epimerase in erythrocytes

More general terms

• galactosemia

Additional terms

• UDP-glucose 4-epimerase; UDP-galactose 4-epimerase; galactowaldenase (GALE)

Database

• OMIM: https://mirror.omim.org/entry/230350