Phenylalanine | Laboratory research

General Information

Determination of phenylalanine in the blood is important for monitoring phenylketonuria and hyperphenylalaninemia.

Phenylketonuria is a genetic disorder of amino acid phenylalanine metabolism that is inherited in an autosomal recessive manner. The disease is caused by a genetic deficiency of the enzyme phenylalanine-hydroxylase synthase, which converts the amino acid phenylalanine into tyrosine. Deficiency of the enzyme leads to the accumulation of phenylalanine in the blood and tissues.

In untreated cases, the excessive concentration of phenylalanine in the blood causes brain tissue damage, delay in intellectual development, behavioral disorders, lethargy and spasticity in the child.