Abstract：Phenylketonuria is an autosomal recessive inherited disease and one of the most prevalent amino acid metabolic disorders. It is caused by the deficiency of related enzymes in phenylalanine metabolism, which can lead to accumulation of phenylalanine and other bypass metabolites and disrupt the normal metabolism,thus shows a series of clinical symptoms.Phenylketonuria is one of the major neonatal screening diseases in our country. Current clinical screening of phenylketonuria is based on blood phenylalanine concentration, but superabundant phenylalanine and other bypass metabolites can excreted in urine. So detecting the biomarkers in urine of phenylketonuria can be used for the neonatal screening of phenylketonuria,with an advantage of the easy and non-invasive sample collecting.This paper reviewed the biological metabolism of phenylalanine and the research progress of biomarkers in the urine.
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2016, Vol. 23 
