Galactosemia is caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is an inborn error of metabolism. This causes galactose-1-phosphate to accumulate in the liver, inhibiting other enzymes and causing hypoglycemia. Clinical features include liver enlargement, jaundice, cataracts, mental retardation, and accumulation of galactose in the urine. Treatment involves removing lactose from the diet to prevent symptoms; special diets may be stopped after 4 years when another enzyme becomes active.

1. GALACTOSEMIA
V.S.RASHMI PRIYEM
ULTRA’S BEST Dental Science College

2. Cause
 Deficiency Of Enzyme Galactose-1-
Phosphate UridylTransferase.
 It Is An Inborn Error Of Metabolism.
 Incidence Is 1 In 35,000 Births.
Rashmi Priyem Saravanan

3. Effect
 DueToThe Block InThis Enzyme,
Galactose-1- PhosphateWill Accumulate In
Liver.
 ThisWill Inhibit Galactokinase AsWell As
Glycogen Phosphorylase.
 Hypoglycemia IsThe Result
Rashmi Priyem Saravanan

4. Effect
 Bilirubin Uptake Is Less And Bilirubin
Conjugation Is Reduced
 So Unconjugated Bilirubin Level Is
Increased In Blood
Rashmi Priyem Saravanan

5. Clinical Conditions
 There Is Enlargement Of Liver, Jaundice
And Severe Mental Retardation.
Rashmi Priyem Saravanan

6. Clinical Conditions
 Free Galactose Accumulates, LeadingTo
Galactosemia.
 It Is Partly Excreted In Urine (Galactosuria)
Rashmi Priyem Saravanan

7. Clinical Conditions
 Galactose Is ReducedTo Dulcitol
 The Accumulation Of Dulcitol InThe Lens
Results In Cataract DueTo Its Osmotic Effect.
 This Is Called Congenital Cataract
 Very Characteristic Feature Of Galactosemia.
Rashmi Priyem Saravanan

8. Clinical Conditions
 Galactose-1-phosphate May Get Deposited In
RenalTubules, ProducingTubular Damage
LeadingTo Generalized Amino Aciduria.
Rashmi Priyem Saravanan

9. Diagnosis
 Clinical Manifestation Including
 Congenital Cataract
 Presence Of Galactose In Urine
 Elevated Blood Galactose Levels
 Will Help InThe Diagnosis.
 Collection Of Fetal Cells By Amniocentesis
May Be Useful In Prenatal Diagnosis.
Rashmi Priyem Saravanan

10. Treatment
 If Lactose IsWithdrawn FromThe Diet,
Most OfThe Symptoms Recede. Early
Detection Is Most Important.
 For Affected Infant Lactose-free Diet Is
Given.
 Such Special Diets May BeWithdrawn After 4
Years,When Galactose-1-phosphate
Pyrophosphorylase Becomes Active.
Rashmi Priyem Saravanan