Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
- Posset R Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
- Garbade SF Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
- Gleich F Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
- Gropman AL Children's National Health System, Washington, DC, USA.
- de Lonlay P Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Service de Maladies Metaboliques (MaMEA), filière G2M, Université Paris-Descartes, Paris, France.
- Hoffmann GF Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
- Garcia-Cazorla A Hospital San Joan de Deu, Institut Pediàtric de Recerca. Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
- Nagamani SCS Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
- Baumgartner MR University Children's Hospital Zurich and Children's Research Center, Zurich, Switzerland.
- Schulze A University of Toronto and the Hospital for Sick Children, Toronto, ON, Canada.
- Dobbelaere D Centre de Référence Maladies Héréditaires du Métabolisme de L'Enfant Et de L'Adulte, Jeanne de Flandre Hospital, CHRU Lille, and Faculty of Medicine, University Lille 2, Lille, France.
- Yudkoff M School of Medicine and Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.
- Kölker S Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
- Zielonka M Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Matthias.Zielonka@med.uni-heidelberg.de.
- 2020-07-21
Published in:
- Scientific reports. - 2020
English
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.
- Language
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- English
- Open access status
- gold
- Identifiers
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- DOI 10.1038/s41598-020-67496-3
- PMID 32686765
- Persistent URL
- https://folia.unifr.ch/global/documents/200468
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