USMLE

Galactosemia

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Metabolic Disorders
  1. Albinism
  2. Pyruvate Dehydrogenase Deficiency
  3. Pyruvate Kinase Deficiency
  4. G6PD Deficiency
  5. Essential Fructosuria
  6. Hereditary Fructose Intolerance
  7. Galactosemia
  8. Galactokinase Deficiency
  9. Lactase Deficiency
  10. Ornithine Transcarbamylase Deficiency
  11. Phenylketonuria (PKU)
  12. Maple Syrup Urine Disease
  13. Alkaptonuria
  14. Homocystinuria
  15. Cystinuria
  16. Propionic Acidemia
  17. Lesch-Nyhan Syndrome
  18. Systemic Primary Carnitine Deficiency
  19. MCAD Deficiency

Galactosemia is an severe autosomal recessive condition impairing the body's ability to metabolize galactose, a simple sugar found in dairy products.

Classic Galactosemia is usually caused by a defect in Galactose-1-Phosphate UDP-transferase (Gal-1-P uridyltransferase, or GALT), an enzyme that catalyzes the conversion of Galactose-1-Phosphate to Glucose-1-Phosphate (see Galactose Metabolism - coming soon!), although rare cases can also be caused by defects in 4-epimerase. Galactose-1-Phosphate, Galactose, and Galactitol accumulate inside cells, leading to toxic manifestations.

Compared to Galactokinase Deficiency, symptoms are more severe, and present in infancy with jaundice, hepatomegaly, nausea/vomiting, failure to thrive, infantile cataracts, and intellectual disability. An important complication is the development of E. Coli sepsis.

Find this Galactosemia Deficiency mnemonic and more mnemonics for Metabolic Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.