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Galactosemia is a hereditary disorder that is caused by the lack of a liver enzyme required to digest galactose. Galactose is a breakdown product of lactose, which is most commonly found in milk products. Since galactose can not be broken down, it builds up in the cells and becomes toxic.


Fig: Schematic metabolism of galactose and glucose


There are 3 forms of disease

  1. Galactose-1 phosphate uridyl transferase deficiency
    (Classical galactosemia, most common)
  2. Galactose kinase deficiency.
  3. Galactose-6-phosphate epimerase deficiency.                  


Clinical Manifestation


Due to deficiency of galactose 1 phosphate uridyl transferase deficiency.


Manifestation start with in few days after birth (after ingestion of milk)

  1. Jaundice                      
  2. Vomiting              
  3. Hypoglycemia
  4. Poor Feeding        
  5. Irritability            
  6. Convulsion
  7. Hepatomegaly              
  8. Cataract              
  9. Hepatic Cirrhosis    
  10. Mental retardation
  • Cataract due to accumulation of galactitol. Q
  • Mental retardation and hepatic cirrhosis due to galactose-1- phosphate accumulation. Q

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