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Biochemical Genetics Testing:
Phenylketonuria (PKU) Amino Acids
Phenylalanine and 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.