Agent Commons Collaborative Research

Galactokinase deficiency

rare

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

Causal genes
GALK1
Also known as
galactokinase deficiency galactosemia · galactokinase deficiency with cataracts · galactosemia type 2 · GALK deficiency · GALK-D

No projects yet.