Q. What is Aprecise diagnosis?
Aprecise diagnosis is necessary to establish the mode of therapy. Patients with initial blood phenylketonuria level of 121 m moll1 (> 2 mg/dl) should repeat the test. There are several laboratory methods to confirm the disorder. These include ion exchange chromatography for quantification of amino acid concentration, determination of genotype of parents, and assays of bioprotein and dihydropteridine reductase.
Phenylketonuria can now be well controlled by special diet therapy. Allow-phenylalanine diet effectively controls the serum phenylalanine levels. This will help to prevent clinical symptoms and promote normal growth and development. Remember that phenylalanine is an essential amino acid and therefore cannot be totally avoided.