Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Standard
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders. / Urea Cycle Disorders Consortium (UCDC).
in: SCI REP-UK, Jahrgang 10, Nr. 1, 20.07.2020, S. 11948.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
AU - Posset, Roland
AU - Garbade, Sven F
AU - Gleich, Florian
AU - Gropman, Andrea L
AU - de Lonlay, Pascale
AU - Hoffmann, Georg F
AU - Garcia-Cazorla, Angeles
AU - Nagamani, Sandesh C S
AU - Baumgartner, Matthias R
AU - Schulze, Andreas
AU - Dobbelaere, Dries
AU - Yudkoff, Marc
AU - Kölker, Stefan
AU - Zielonka, Matthias
AU - Urea Cycle Disorders Consortium (UCDC)
PY - 2020/7/20
Y1 - 2020/7/20
N2 - 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.
AB - 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.
KW - Biomarkers
KW - Body Weight
KW - Child
KW - Child, Preschool
KW - Databases, Factual
KW - Disease Management
KW - Female
KW - Human Development
KW - Humans
KW - Infant
KW - Male
KW - Public Health Surveillance
KW - Symptom Assessment
KW - Urea Cycle Disorders, Inborn/diagnosis
KW - Weights and Measures
U2 - 10.1038/s41598-020-67496-3
DO - 10.1038/s41598-020-67496-3
M3 - SCORING: Journal article
C2 - 32686765
VL - 10
SP - 11948
JO - SCI REP-UK
JF - SCI REP-UK
SN - 2045-2322
IS - 1
ER -