ArticleScientific reports2020
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
Article in Scientific reports, 2020. 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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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders.JIMD reports · 2026Article
- Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate.Orphanet journal of rare diseases · 2026Review
- Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders.Scientific reports · 2026Article
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- Article
- Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.Molecular genetics and metabolism reports · 2025Article
- Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.Molecular genetics and metabolism · 2024Article
- Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report.Frontiers in nutrition · 2024Article
- Hyperosmolarity in children with hyperammonemia: a risk of brain herniation at the start of renal replacement therapy.Frontiers in pediatrics · 2024Article
- Article
- Body Mass Index and Associated Medical Expenditures in the US Among Privately Insured Individuals Aged 2 to 19 Years in 2018.JAMA pediatrics · 2023Article
- Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.International journal of neonatal screening · 2021Review
- Physical, cognitive, and social status of patients with urea cycle disorders in Japan.Molecular genetics and metabolism reports · 2021Article
- Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.Molecular genetics and metabolism · 2020Article
Corrections and comments
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Authors and funding
16 authors at 20 institutions in 17 countries.
Funding
Abstract
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on the long-term effects of the proposed medical management in individuals with UCDs. We studied the impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD). Intrauterine growth of all investigated UCDs and postnatal linear growth of asymptomatic individuals remained unaffected. Symptomatic individuals were at risk of progressive growth retardation independent from the underlying disease and the degree of natural protein restriction. Growth impairment was determined by disease severity and associated with reduced or borderline plasma branched-chain amino acid (BCAA) concentrations. Liver transplantation appeared to have a beneficial effect on growth. Weight development remained unaffected both in asymptomatic and symptomatic individuals. Progressive growth impairment depends on disease severity and plasma BCAA concentrations, but cannot be predicted by the amount of natural protein intake alone. Future clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth in UCDs.
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Registered trials
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