Case 12: Phenylketonuria A 2-wk old female responded positively to a test for PKU administered on discharge from the hos

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Case 12: Phenylketonuria
A 2-wk old female responded positively to a test for PKU
administered on discharge from the hospital following her birth.
She was called back for further testing. Serum Phe
concentration was 30 mg/dl (normal: 1 mg/dl) and tyrosine was 2
mg/dl. The urine was positive for phenolic acids and FeCl3
detected ketones. A diagnosis of classic PKU was made and the child
was maintained on a diet low in Phe.
1. What enzymatic reactions are defective in the
patient with PKU?
2. What are the physiologic consequences of PKU?
3. Why PKU should be detected as early as possible?
4. What is the incidence of PKU among various ethnic
groups?
5. What is the treatment for the patient with PKU?