ArticlePediatric research2022
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.
Article in Pediatric research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team.Orphanet journal of rare diseases · 2026Article
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.Nutrients · 2026Review
- Review
- The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.Orphanet journal of rare diseases · 2025Review
- Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.Journal of neurology · 2024Article
- Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China.JAMA network open · 2024Article
- Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.Nutrients · 2022Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Looking back at the neonatal period in early-treated phenylketonuric patients.Pediatric research · 2022Article
- Untreated PKU patients without intellectual disability:Molecular genetics and metabolism reports · 2021Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn phenylketonuria, treatment and subsequent lowering of phenylalanine levels usually occur within the first month of life. This study investigated whether different indicators of metabolic control during the neonatal period were associated with IQ during late childhood/early adolescence.
methodsOverall phenylalanine concentration during the first month of life (total "area under the curve"), proportion of phenylalanine concentrations above upper target level (360 μmol/L) and proportion below lower target level (120 μmol/L) during this period, diagnostic phenylalanine levels, number of days until phenylalanine levels were <360 μmol/L, and lifetime and concurrent phenylalanine levels were correlated with IQ scores of 64 PKU patients (mean age 10.8 years, SD 2.9).
resultsOverall phenylalanine concentration and proportion of phenylalanine concentrations >360 μmol/L during the first month of life negatively correlated with IQ in late childhood/early adolescence. Separately, phenylalanine concentrations during different periods within the first month of life (0-10 days, 11-20 days, 21-30 days) were negatively correlated with later IQ as well, but correlation strengths did not differ significantly. No further significant associations were found.
conclusionsIn phenylketonuria, achievement of target-range phenylalanine levels during the neonatal period is important for cognition later in life, also when compared to other indicators of metabolic control. IMPACT: In phenylketonuria, it remains unclear during which age periods or developmental stages metabolic control is most important for later cognitive outcomes. Phenylalanine levels during the neonatal period were clearly and negatively related to later IQ, whereas no significant associations were observed for other indices of metabolic control. This emphasizes the relative importance of this period for cognitive development in phenylketonuria. No further distinctions were observed in strength of associations with later IQ between different indicators of metabolic control during the neonatal period. Thus, achievement of good metabolic control within 1 month after birth appears "safe" with respect to later cognitive outcomes.
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