Master Galactokinase Deficiency with Picmonic for Medicine

Galactokinase deficiency is an autosomal recessive metabolic disorder caused by a deficiency in the enzyme galactokinase. Galactokinase catalyzes the first step of galactose metabolism from galactose to galactose-1-phosphate. Deficiency of this enzyme causes marked accumulation of galactose and galactitol in the blood and urine. Unlike classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Although the disease is mostly clinically benign, patients do develop cataracts early due to accumulation of galactitol in the lens. Sometimes, this presents with failure to develop a social smile. Treatment include elimination of galactose in the diet.