ArticleJournal of inherited metabolic disease2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
Article in Journal of inherited metabolic disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Review
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.Journal of inherited metabolic disease · 2025Review
- Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.JIMD reports · 2025Article
- A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia.Molecular genetics and metabolism reports · 2024Article
- Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).Molecular genetics and metabolism reports · 2024Review
- Emotional and behavioural functioning in children with tyrosinaemia type 1.Pediatric endocrinology, diabetes, and metabolism · 2024Article
- Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.Journal of inherited metabolic disease · 2022Article
Corrections and comments
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Authors and funding
35 authors at 20 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal-Wallis tests with post-hoc Mann-Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions "working memory", "plan and organize" and "monitor", ASEBA dimensions "social problems" and "attention problems", and for the SSRS "assertiveness" scale (all p values <0.001). To conclude, TT1 patients showed cognitive impairments on all domains studied, and appeared to be significantly more affected than PKU patients. More attention should be paid to investigating and monitoring neurocognitive outcome in TT1 and research should focus on explaining the underlying pathophysiological mechanism.
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