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Title: Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Authors: Posset, Roland
Garbade, Sven F.
Gleich, Florian
Gropman, Andrea L.
de Lonlay, Pascale
Hoffmann, Georg F.
Garcia-Cazorla, Angeles
Nagamani, Sandesh C.S.
Baumgartner, Matthias R.
Schulze, Andreas
Dobbelaere, Dries
Yudkoff, Marc
Kölker, Stefan
Zielonka, Matthias
Ah Mew, Nicholas
Berry, Susan A.
McCandless, Shawn E.
Coughlin, Curtis
Enns, Gregory
Gallagher, Renata C.
Burrage, Lindsay C.
Seminara, Jennifer
Harding, Cary O.
Burgard, Peter
Le Mons, Cynthia
Merritt, J. Lawrence
Stricker, Tamar
Bedoyan, Jirair K.
Berry, Gerard T.
Diaz, George A.
Wong, Derek
Tuchman, Mendel
Waisbren, Susan
Weisfeld-Adams, James D.
Burlina, Alberto B.
Leão Teles, Elisa
Pedrón-Giner, Consuelo
Lund, Allan M.
Dionisi-Vici, Carlo
Williams, Monique
Mütze, Ulrike
Karall, Daniela
Blasco-Alonso, Javier
Couce, Maria L.
Sykut-Cegielska, Jolanta
Augoustides-Savvopoulou, Persephone
Ruiz Gomez, Angeles
Barić, Ivo
Schiff, Manuel
Chien, Yin Hsiu
Lindner, Martin
Chabrol, Brigitte
Skouma, Anastasia
Zeman, Jiri
Sokal, Etienne
Santer, René
Eyskens, Francois
Freisinger, Peter
Peña Quintana, Luis 
Roland, Dominique
Cortès-Saladelafont, Elisenda
Djordjevic, Maja
UNESCO Clasification: 32 Ciencias médicas
Issue Date: 2020
Journal: Scientific Reports 
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.
ISSN: 2045-2322
DOI: 10.1038/s41598-020-67496-3
Source: Scientific Reports [EISSN 2045-2322], v. 10 (1), 11948, (Diciembre 2020)
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