91 MATERNAL PHENYLKETONURIA (MPKU) – DISEASE SPECIFIC KNOWLEDGE OF FEMALE PATIENTS

Maternal phenylketonuria

Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations.

BACKGROUND Women with untreated phenylketonuria (PKU) often have poor reproductive outcomes. OBJECTIVE We assessed the effects of intakes of major nutrients on plasma phenylalanine concentrations and we measured phenylalanine hydroxylase activity and phenylalanine intakes in pregnant women with PKU. DESIGN Dietary intakes and plasma phenylalanine concentrations were compared in 4 subject gr...

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

In our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in maternal parents of the PKU cohort. This finding prompted us to evaluate the risk of either mild phenylketonuria or mild hyperphenylalaninemia in the parent population whose children were diagnosed with hyperphenylalaninemia (HPA). Taking...

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...