ArticleJournal of inherited metabolic disease2016
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders.Journal of inherited metabolic disease · 2026Observational
- Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.Metabolic brain disease · 2026Review
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD).Journal of patient-reported outcomes · 2025Article
- Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis.Clinical and experimental pediatrics · 2025Article
- Caregiver's experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey.Orphanet journal of rare diseases · 2025Article
- Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.Molecular genetics and metabolism · 2023Review
- Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.International journal of molecular sciences · 2022Article
- The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study.Molecular genetics and metabolism reports · 2021Article
- Functional neurologic disorders in an adult with propionic acidemia: a case report.BMC psychiatry · 2021Article
- Physical, cognitive, and social status of patients with urea cycle disorders in Japan.Molecular genetics and metabolism reports · 2021Article
- Time Effects of Supportive Interaction and Facilitator Input Variety on Treatment Adherence of Young People with Chronic Health Conditions: A Dynamic Mechanism in Mutual Aid Groups.International journal of environmental research and public health · 2021Article
- High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry.JIMD reports · 2020Article
- Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.Scientific reports · 2019Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.Journal of inherited metabolic disease · 2019Article
- Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.Journal of inherited metabolic disease · 2019Article
- Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.Orphanet journal of rare diseases · 2018Article
- Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.JIMD reports · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOrganic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected.
methodsData of 152 patients with OADs (n = 100) and UCDs (n = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data.
resultsBehavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural/emotional problems, not different from epidemiological data. Mental disability (IQ ≤ 70) was found in 31% of OAD, 43% of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural/emotional problems were significantly associated with intellectual functioning (OR = 6.24, 95%CI: 1.39-27.99), but HRQoL was independent from both variables.
conclusionsPatients with OADs and UCDs show increased frequencies of mental disability and behavioural/emotional problems. Profiles of behavioural/emotional problems were similar to epidemiological data. Intellectual disability and behavioural/emotional problems were strongly associated. Patients' HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD/UCD patients should be improved regarding behavioural/emotional, intellectual and quality of life aspects.
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