- Pyruvate Dehydrogenase Deficiency
- Pyruvate Kinase Deficiency
- G6PD Deficiency
- Essential Fructosuria
- Hereditary Fructose Intolerance
- Galactokinase Deficiency
- Lactase Deficiency
- Ornithine Transcarbamylase Deficiency
- Phenylketonuria (PKU)
- Maple Syrup Urine Disease
- Propionic Acidemia
- Lesch-Nyhan Syndrome
- Systemic Primary Carnitine Deficiency
- MCAD Deficiency
Galactokinase Deficiency is an autosomal recessive condition in which the body is unable to properly metabolize galactose, a simple sugar found in lactose-containing or dairy products.
Specifically, the disease is caused by a deficiency of galactokinase (GALK), which normally converts Galactose to Galactose-1-Phosphate (see Galactose Metabolism - coming soon!), trapping galactose inside the cell for eventual metabolism into Glucose-1-Phosphate.
As compared to Classic Galactosemia, symptoms are more mild, and are usually caused by buildup of galactitol produced from galactose via an alternative aldose reductase pathway. Inability to trap and metabolize galactose in cells leads to increased galactose in the blood and urine (galactosuria). Galactitol is osmotically active and can cause cataracts when accumulating in the lens.
Find this Galactokinase Deficiency mnemonic and more mnemonics for Metabolic Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.