ArticleMolecular genetics and metabolism reports2017
First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU.
Article in Molecular genetics and metabolism reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria.JAMA network open · 2026Article
- Clinical practice considerations for restarting pegvaliase in adults with phenylketonuria.Molecular genetics and metabolism reports · 2026Article
- Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.JIMD reports · 2025Article
- Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia.Sisli Etfal Hastanesi tip bulteni · 2025Article
- Looking back at the neonatal period in early-treated phenylketonuric patients.Pediatric research · 2022Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 μmol/L (group A), between 240 and 360 μmol/L (group B) or over 360 μmol/L (group C) during their first year of life.
methods70 patients diagnosed with PKU through neonatal screening with Phe > 900 μmol/L, were divided into 3 groups: A, B and C, according to mean Phe concentrations and standard deviation (SD). Metabolic control during childhood, psychomotor development and IQ were compared.
resultsIn group A, Phe was maintained within the recommended range until 6 years of age, in Group B, until 3 years of age, and in group C, Phe was always over the recommended range. No significant differences were found between the three groups in mental development index (MDI) and motor development index (PDI) scores at 12, 24, and 30 months of age, but group C had the lowest scores on MDI at all age periods. At preschool and school age, IQ was higher in group A compared to group C.
conclusionResults show that mean blood Phe concentrations between 120 and 240 μmol/L during first year of life have a positive impact in metabolic control and cognitive functioning during childhood.
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