Maternal phenylketonuria

Scientific News Contrasting Phenotypes of Fetal Alcohol Syndrome, Toluene Embryopathy and Maternal Phenylketonuria

The Maternal Phenylketonuria Project: a summary of progress and challenges for the future.

The results of the International Collaborative Study of Maternal phenylketonuria have shown that dietary phenylalanine restriction of women with hyperphenylalaninemia during pregnancy decreases the incidence of mental retardation, microcephaly, congenital heart disease, and intrauterine growth retardation in their offspring. The best results are achieved when treatment is initiated before conce...

Historical background for the maternal PKU syndrome.

OBJECTIVE To provide information on the history of maternal phenylketonuria. METHODS A review of the literature and personal observations were conducted. RESULTS Compilation of sequential information about the development of our understanding of maternal PKU was produced. CONCLUSIONS The history of maternal PKU reflects continuous additions to our understanding of this teratogenic syndrome.

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

BACKGROUND Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardat...

Effect of large neutral amino acids on maternal phenylketonuria offspring

Phenylketonuria (PKU) is an inborn error in the metabolism of the amino acid phenylalanine (Phe) due to the deficiency of an enzyme phenylalanine hydroxylase (PAH). Current therapy consists of a Phe – restricted diet for life to ensure the healthiest development. It is particularly important for PKU women in the reproductive age group to comply with the diet, since elevated maternal blood Phe l...

Maternal phenylketonuria: abnormal baby despite low phenylalanine diet during pregnancy.

During a screening programme of 10000 pregnant women by the Guthrie test, a previously unrecognised phenylketonuric woman was detected. A low phenylalanine diet introduced from the 16th week of gestation failed to prevent fetal abnormality and mental retardation. Maternal phenylketonuria requires earlier diagnosis than can be achieved at the initial antenatal clinic visit if its teratogenic eff...