ArticleJournal of inherited metabolic disease2012
Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 63 citations in OpenAlex.
- How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.Nutrients · 2026Article
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.Journal of inherited metabolic disease · 2025Review
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Article
- New challenges in management of phenylketonuria in pregnancy: a case report.Journal of medical case reports · 2023Article
- Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.Scientific reports · 2023Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Phenylketonuria.Nature reviews. Disease primers · 2021Review
- Continuation of pegvaliase treatment during pregnancy: A case report.Molecular genetics and metabolism reports · 2021Article
- Maternal genetic diseases: potential concerns for mother and baby.Human genetics · 2020Review
- PKU dietary handbook to accompany PKU guidelines.Orphanet journal of rare diseases · 2020Review
- First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.Molecular genetics and metabolism reports · 2019Article
- Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.European journal of pediatrics · 2019Article
- Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report.Molecular genetics and metabolism reports · 2017Article
- The complete European guidelines on phenylketonuria: diagnosis and treatment.Orphanet journal of rare diseases · 2017Review
- What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?JIMD reports · 2017Article
- Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.European journal of pediatrics · 2016Article
- Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?JIMD reports · 2015Article
- Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.Journal of inherited metabolic disease · 2014Article
- Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects.Journal of inherited metabolic disease · 2014Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMalformations and mental retardation in the offspring of women with Phenylketonuria (PKU) can be prevented by maintaining maternal blood Phenylalanine (PHE) within a target range (120-300 μmol/L) through a PHE-restricted diet. In a former French study, a high and unexpected proportion of intra uterine growth retardation (IUGR) has been reported. Guidelines have been proposed to all French centres caring for maternal PKU since 2002.
objectiveTo confirm IUGR and investigate its causes. The other goals were to assess the follow-up of these pregnancies based on the new guidelines and the pertinence of these recommendations.
designClinical, biological and ultrasound data of all pregnancies in PKU women in France, from 2002 to 2007 were retrospectively analyzed.
resultsData from 115 pregnancies in 86 women with PKU were collected. Ninety percent of women had been informed of the risk of maternal PKU in the absence of a strict diet during pregnancy, 88 % of women had started a diet before conception, and 45 % of infants were born small for gestational age (birth length and/or weight ≤-2 SD). PHE intakes were lower in the group with IUGR from the fifth to the eighth month of pregnancy and duration of time spent at <120 μmol/L during pregnancy was associated with a higher risk of IUGR.
conclusionHyperphenylalaninemia (HPA) is not the only risk factor for IUGR; PHE lower than 120 μmol/L could also be associated with the IUGR occurrence. Even if the monitoring of these pregnancies has been improved since the initiation of guidelines, we would like to stress on the importance of the dietary aspect of the disease.
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