E G Friedman — Page 2 | Search PubMed

PubMed1978

Congenital and neurological abnormalities in infants with phenylketonuria.

We reported the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study of children treated for PKU. The overall occurrence (9.3%) of congenital anomalies was not significantly different from that of a general population, except for an apparent increased incidence of pyloric stenosis. None of the subjects had a persistent major neurological defect.

Abnormalities, Multiple↗

PubMed1976

Intellectual performance of 36 phenylketonuria patients and their nonaffected siblings.

Thirty-six patients with a confirmed diagnosis of phenylketonuria (PKU) were identified and placed on dietary therapy before reaching 121 days of age. These children are currently between 4 and 6 years old, and have been given the Stanford-Binet Intelligence Scale. Subsequently, their normal siblings of closet age were selected as matched-pair controls and were also tested with the Stanford-Binet. The mean age of the PKU sample when tested was 50.0 months, and 50.9 months for the normal controls. The 36 index patients scored a mean IQ of 94 and their nonaffected siblings obtained a mean IQ of 99. This five-point mean difference was significant at the .02 level, and suggests the presence of a minimal intellectual impairment associated with PKU, even when treatment begins early and is rigorously monitored.

Adolescent↗