ArticleWiener medizinische Wochenschrift (1946)2009
A case of maternal PKU syndrome despite intensive patient counseling.
Article in Wiener medizinische Wochenschrift (1946), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.Nutrients · 2025Pooled it
- Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.Orphanet journal of rare diseases · 2021Article
- Ten years of specialized adult care for phenylketonuria - a single-centre experience.Orphanet journal of rare diseases · 2016Article
- Transition of young adults with phenylketonuria from pediatric to adult care.Journal of inherited metabolic disease · 2011Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a 21-year-old woman with classic phenylketonuria, who presented at our outpatient clinic at week 14 of pregnancy. Despite intensive preconceptional counselling about the risk of raised Phenylalanine (Phe) levels for the offspring and nutritional consultations about the necessity to be on a Phe-restricted diet she had elevated blood Phe concentrations. Phe level could be lowered to the recommended range during a stay as an inpatient, but the patient was not able to maintain the recommended levels due to non-compliance. The patient delivered a newborn with classic maternal PKU syndrome (microcephaly, brachygnathia, congenital heart defect and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet. With more PKU patients reaching the childbearing age, intensive preconception counselling about maternal PKU syndrome is of pivotal importance for the women. However, a major factor in preventing Phe embryopathy is patient compliance in keeping the diet, which was insufficient in the case presented.
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