Galactokinase Deficiency
An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life.
Exact Synonyms
Galactokinase Deficiency
Galactosemia Type 2
GALK Deficiency
class Information
code
C114767
Contributing_Source
Cellosaurus
Preferred_Name
Galactokinase Deficiency
Semantic_Type
Disease or Syndrome
UMLS_CUI
C0268155
class Relations
Subclass of