Bony changes of PKU neonates unrelated to phenylalanine levels.

In 1962 bone abnormalities were described radiographically in phenylketonuria patients. Later, observations were made on PKU infants during the neonatal period, which allowed differentiation between inherited alterations in bone development from those changes due to dietary restriction. Similar changes have been described in other aminoacidurias. Wrist radiographs and serum phenylalanine levels were obtained on 73 patients first seen between 1965 and 1990. All radiographs were taken on the day of referral, when the patient was between 6 and 57 days old. Forty-nine patients were less than 28 days old. Bone abnormalities were present in 56 of 73 (77%) of the children, as compared to 0 of 16 in a control group. The presence or absence of bone abnormality is unrelated to serum phenylalanine level, and to the age of the children at referral. This finding suggests that the cause of these mesodermal changes is not a deviation of a single amino acid in the infant, but that they are caused by an intrauterine amino acid imbalance.