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GTR Home > Conditions/Phenotypes > Mild phenylketonuria

Mild phenylketonuria

Summary

A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day. [from ORDO]

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