Galactosemia
Facts
:
Found in newborns
Galactose-1-phosphate uridyl transferase
deficiency
Leads to the accumulation of galactose-1-phosphate in the liver, brain, and kidneys
History / PE
:
Failure to thrive
Bilateral cateracts
Jaundice
Hypoglycemia
Treatment
:
Elimination of galactose from diet
Complications
:
Fanconi's syndrome
Cirrhosis
Mental retardation
August 7th 2010
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Pediatrics
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