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The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.
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Phenylketonuria
Phenylketonuria
Prevalence:
~50K
metabolic
Official
·
OMIM:261600
Official
·
ORPHA716
Inborn metabolic disorder caused by inability to metabolize phenylalanine amino acid.
Associated Genes
PAH
Phenylalanine Hydroxylase
Chromosome 12
Autosomal Recessive