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Galactose 6- phosphate epimerase deficiency.

Manifestation resembles transferase deficiency with additional symptoms of Hypotonia and nerve deafness.

Patient with galactosemia are at increased risk for E. coli neonatal sepsis. Q



  1. Diagnosis test depend on administration of galactose orally or I V should not be used.
  2. Reducing substances in urine present further identified by chromatography or by enzyme test specific for galactose.
  3. Dip stick test negative.
  4. Deficient activity of galactose-1-PO4 uridyl transferase demonstrable in hemolysate of erythrocytes. 

Treatment Elimination of galactose from diet.

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