Galactokinase deficiency
Galactokinase deficiency
Definition
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.
Also known as galactokinase deficiency, galactokinase deficiency galactosemia, galactokinase deficiency with cataracts, galactosemia type 2, GALK deficiency, GALK-D — per MONDO