Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Scientific Reports
Roland PossetEuropean registry and network for Intoxication type Metabolic Diseases (E-IMD)

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...Continue Reading

References

Jul 8, 1999·Proceedings of the National Academy of Sciences of the United States of America·J ShenD L Rothman
Jan 24, 2003·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Claudia ZwingmannRoger F Butterworth
Oct 31, 2008·Current Protocols in Human Genetics·Tina M Cowan, Erin T Strovel
Dec 24, 2010·Annals of Human Biology·Tim J ColeUNKNOWN RCPCH Growth Chart Expert Group
May 19, 2012·Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association·S AdamUNKNOWN British Inherited Metabolic Diseases Group (BIMDG) Dietitian’s Group
May 31, 2012·Orphanet Journal of Rare Diseases·Johannes HäberleCarlo Dionisi-Vici
Jun 20, 2013·Journal of Inherited Metabolic Disease·Corinne M RüeggerJohannes Häberle
Aug 27, 2013·Molecular Genetics and Metabolism·Marshall L SummarBrian Kirmse
Oct 12, 2013·Molecular Genetics and Metabolism·S AdamH Zweers
May 27, 2014·Molecular Genetics and Metabolism·Avihu Boneh
Jul 22, 2014·Molecular Genetics and Metabolism·Lindsay C BurrageSandesh C S Nagamani
Apr 16, 2015·Journal of Inherited Metabolic Disease·Stefan KölkerPeter Burgard
Apr 16, 2015·Journal of Inherited Metabolic Disease·Stefan KölkerAngeles Garcia Cazorla
Jun 19, 2015·Current Opinion in Pediatrics·Julian C LuiJeffrey Baron
Mar 5, 2016·Journal of Human Genetics·Kimitoshi NakamuraFumio Endo
Apr 24, 2016·Journal of Inherited Metabolic Disease·Roland PossetUNKNOWN Additional individual contributors of the E-IMD consortium
May 24, 2016·EBioMedicine·Richard D SembaMark J Manary
Jun 18, 2017·Orphanet Journal of Rare Diseases·Susanne NettesheimUNKNOWN Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabo
Jan 18, 2019·Experimental Neurology·Matthias ZielonkaJürgen Günther Okun
Feb 12, 2019·Journal of Inherited Metabolic Disease·Roland PossetUNKNOWN Additional individual contributors of the UCDC and the E-IMD consortium
Apr 16, 2019·Journal of Inherited Metabolic Disease·Johannes HäberleCarlo Dionisi-Vici
Apr 25, 2019·Annals of Neurology·Roland PossetUNKNOWN Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Stu

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Citations

Dec 9, 2020·Molecular Genetics and Metabolism·Roland PossetUNKNOWN Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD
Feb 23, 2021·Molecular Genetics and Metabolism Reports·Jun KidoKimitoshi Nakamura
Jul 3, 2021·International Journal of Neonatal Screening·Atsumi Tsuji-Hosokawa, Kenichi Kashimada

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