Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With Phenylketonuria

Phenylketonuria

inborn errors of metabolism, phenylketonuria, rare disease

OBJECTIVES: I. Assess the impact of a phenylalanine restricted diet during pregnancy on symptoms in offspring of patients with phenylketonuria.

PROTOCOL OUTLINE: This is a multicenter study. Patients receive a phenylalanine restricted diet based on a medical food such as Phenyl-free, Lofenalac, PKU 3, or Maximum XP (may be supplemented with tyrosine as needed) to achieve a target blood phenylalanine level of 2-6 mg/dL. The diet begins approximately 3 months prior to conception and continues until delivery of the baby. Patients are evaluated once a month before conception and weekly during pregnancy. Patients also undergo sonographic examination at 8, 20, 28, and 34 weeks gestation. At birth, the cord blood is evaluated for plasma amino acids. If the baby is found to have an elevated phenylalanine level, blood and urine are obtained to determine the baby's genetic status. Phenylalanine and tyrosine levels are checked in the baby daily for three days after birth. The baby is followed for physical and mental development at 3 and 6 months and then annually thereafter.

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