Biochemical Genetics Testing:

Phenylketonuria (PKU) Amino Acids

Phenylalanine/Tyrosine only

  • Phenylketonuria (commonly known as PKU, incidence 1 in 13,500–19,000 births in the United States) is an inherited disorder of phenylalanine metabolism characterized by phenylalanine hydroxylase deficiency.

  • Clinically, PKU can be presented with growth failure, global developmental delay, severe intellectual disabilities and other severe symptoms.

  • During pregnancy, elevated levels of phenylalanine have teratogenic effects on the developing fetus and the condition is recognized as maternal PKU.

  • Phenylalanine accumulation is also seen in defects of biopterin cofactor biosynthesis and regeneration.

  • Nutritional management of PKU targets excessive accumulation of phenylalanine by restriction of natural protein intake in combination with the use of phenylalanine-free protein substitutes.

Available Tests
Turnaround Time = 48-72 hours, priority given to critically ill patients and infants less than one year of age