galactokinase deficiency
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.
MONDO:0018116
galactosemia
is_a
MONDO:0800152
disorder of galactose and fructose metabolism
is_a
GALK deficiency
exact
GALK-D
exact
galactokinase deficiency
exact
galactokinase deficiency galactosemia
exact
galactokinase deficiency with cataracts
exact
galactosemia type 2
exact
hereditary galactokinase deficiency
related
SPBPB2B2.13