Galactokinase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - GALK Deficiency - Galactosemia Type 2