84: Maternal Phenylketonuria

Maternal phenylketonuria

Severe mental retardation due to maternal phenylketonuria.

PHENYLKETONURIA (PKU) which, in Northern Ireland, has an incidence of one in 4362 newborns,' is a metabolic disorder in which the conversion of phenylalanine to tyrosine is impaired due to the reduction in activity of the enzyme phenylalanine hydroxylase. It is inherited an an autosomal recessive trait. If begun in early infancy, a low phenylalanine diet which controls the biochemical abnormali...

The Maternal Phenylketonuria International Study: 1984-2002.

OBJECTIVE The purpose of this report is to review the obstetric medical, psychological, and nutritional aspects and outcome of the women and offspring enrolled in the Maternal Phenylketonuria Study, which was established to assess the efficacy of a phenylalanine (Phe)-restricted diet in preventing the morbidity associated with this disorder. METHODS A total of 382 women with hyperphenylalanin...

Maternal phenylketonuria: experiences from the United Kingdom.

Charles Dent was one of the first physicians to recognize the teratogenic effects of maternal phenylalanine (Phe) on the fetus in 1956. This article describes the clinical experiences of women with phenylketonuria (PKU) within the unit that was established by Dent in the United Kingdom. Between 1977 and 2002, 79 infants were born to women with PKU. Of the 79, 18 (23%) were conceived while the w...

Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.

OBJECTIVE To evaluate the clinical relevance of tetrahydrobiopterin (BH4) supplementation for pregnant women with phenylketonuria (PKU)/hyperphenylalaninemia (HPA) and the possibility of treating these patients with BH4 instead of a phenylalanine (Phe)-restricted diet. METHODS Genotyping was performed on 41 patients with PKU/HPA identified by newborn screening. Evaluating the genotype accordi...