ReviewJournal of inherited metabolic disease2007
A practical approach to maternal phenylketonuria management.
Review in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.Nutrients · 2025Pooled it
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Article
- PKU dietary handbook to accompany PKU guidelines.Orphanet journal of rare diseases · 2020Review
- 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
- [Psychomotor retardation and intermitent convulsions for 8 months in an infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.Journal of inherited metabolic disease · 2009Article
- A case of maternal PKU syndrome despite intensive patient counseling.Wiener medizinische Wochenschrift (1946) · 2009Article
- Microcephaly: a radiological review.Pediatric radiology · 2009Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, microcephaly, growth retardation, developmental delay and congenital heart disease. Here we describe our experiences from a single centre gained over almost three decades. A series of six cases is presented to illustrate key points in management. Ideally, phenylalanine-restricted diet is started before conception in a planned fashion, but some women present pregnant and blood phenylalanine must be lowered rapidly. The aims of management are to maintain blood phenylalanine concentration in the target range (100-250 micromol/L) before and throughout the pregnancy, and to ensure adequate maternal nutrition and appropriate weight gain. Blood phenylalanine is monitored twice, three times a week, before and after conception respectively. Weight is monitored on a weekly basis and key micronutrients are monitored every 6-8 weeks in clinic. From the second trimester onwards, dietary phenylalanine intake has to be promptly increased, as phenylalanine tolerance increases rapidly. Postnatal management includes a neurological assessment of the infant at 4-8 weeks and an echocardiogram for infants conceived off diet. Subsequently, offspring are seen at 1 year, 4 years, 8 years and 14 years for neuropsychometric evaluations. Regular follow-up of the mother remains important whether on or off a phenylalanine-restricted diet.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.