A Novel Homozygous GALK1 Variant Combined With Cataract and Prolonged Jaundice
Galactosemia is an inborn error of carbohydrate metabolism caused by the deficiency of the galactose metabolizing enzymes. These enzymes are galactose-1-phosphate uridyl transferase (GALT), galactokinase (GALK), uridine diphosphate galactose 4-epimerase (GALE), and galactose mutarotase (GALM).,, In the classical and the most common form of the disease, due to GALT deficiency, patients may experience an extensive variety of symptoms including neonatal jaundice, hepatomegaly, coagulopathies, sepsis, and cataract. GALK deficiency, however, usually presents with cataract most of the time. Other complications of the disease include hepatosplenomegaly, hypoglycemia, and failure to thrive.