Phenylketonuria - genetic, clinical and therapeutic aspects
2012
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism caused by mutations in phenylalanine hydroxylase (PAH) gene. It is one of the most prevalent metabolic disorders, with a high frequency (around 1/10,000) among Caucasians.
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KQI