What Is Galactosemia?
3. Genetic Anomalies
Classic galactosemia, or type 1, is the most common and most severe type of galactosemia. It develops because of mutations in the GALT gene. The mutations result in complete deficiency of an important enzyme called galactose-1-phosphate uridyl transferase, abbreviated as GALT. GALT is responsible for the digestion and utilization of galactose.
Galactokinase deficiency, or type 2, is caused by mutations in the GALK1 gene, which subsequently causes a deficiency of the enzyme Galactokinase 1. The main symptom of this type is a cataract. It can be prevented and treated easily once discovered. Galactose epimerase deficiency, or type 3, is caused by mutations in the GALE gene, which subsequently causes a deficiency of the enzyme UDP-galactose-4-epimerase. Some people do not have any symptoms. Others experience symptoms resembling classic galactosemia.
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