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Prognosis

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It was once widely accepted that the outcome was excellent if galactose-free diets were adhered to. However, it has now become apparent that:

  • 50% of patients aged over 6 years are developmentally delayed

  • at least 13% have impaired motor function and balance at three years

  • about 60% of patients have a speech disorder

  • 80% of females have primary gonadal failure; it is speculated that this is the result of prenatal damage

  • 20% of patients have some degree of growth retardation

The age at which treatment is implemented, and the severity of the neonatal disorder, do not seem to influence long-term outcome.

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