ArticleOrphanet journal of rare diseases2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 26 citations in OpenAlex.
- Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines.Journal of inherited metabolic disease · 2025Review
- Article
- Progress in Gene Therapy for Hereditary Tyrosinemia Type 1.Pharmaceutics · 2025Review
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Emotional and behavioural functioning in children with tyrosinaemia type 1.Pediatric endocrinology, diabetes, and metabolism · 2024Article
- Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.Molecular genetics and metabolism reports · 2022Article
- The Discovery of the Mode of Action of Nitisinone.Metabolites · 2022Review
- 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
- Long-term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression.JIMD reports · 2022Article
- Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.Pediatric research · 2022Article
- Molecular mediators of the association between child obesity and mental health.Frontiers in genetics · 2022Article
- Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study.Nutrients · 2021Article
- Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
- Preventive use of nitisinone in alkaptonuria.Orphanet journal of rare diseases · 2021Article
- Type 1 tyrosinemia in Finland: a nationwide study.Orphanet journal of rare diseases · 2020Article
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Authors and funding
22 authors at 14 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTreatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investigate behavior problems and health-related quality of life (HR-QoL) in NTBC-dietary-treated TT1 and to relate this to phenylalanine and tyrosine concentrations.
resultsThirty-one TT1 patients (19 males; mean age 13.9 ± 5.3 years) were included in this study. Emotional and behavioral problems, as measured by the Achenbach System of Empirically Based Assessment, were present in almost all domains. Attention and thought problems were particularly evident. HR-QoL was assessed by the TNO AZL Children's and Adults QoL questionnaires. Poorer HR-QoL as compared to reference populations was observed for the domains: independent daily functioning, cognitive functioning and school performance, social contacts, motor functioning, and vitality. Both internalizing and externalizing behavior problems were associated with low phenylalanine (and associated lower tyrosine) concentrations during the first year of life. In contrast, high tyrosine (and associated higher phenylalanine) concentrations during life and specifically the last year before testing were associated with more internalizing behavior and/or HR-QoL problems.
conclusionsTT1 patients showed several behavior problems and a lower HR-QoL. Associations with metabolic control differed for different age periods. This suggests the need for continuous fine-tuning and monitoring of dietary treatment to keep phenylalanine and tyrosine concentrations within target ranges in NTBC-treated TT1 patients.
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