Kanetee Busiah, Célina Roda, Anne-Sophie Crosnier, Anaïs Brassier, Aude Servais, Camille Wicker, Sandrine Dubois, Murielle Assoun, Claire Belloche, Chris Ottolenghi, Clément Pontoizeau, Jean-Claude Souberbielle, Marie-Liesse Piketty, Laurence Perin, Yves Le Bouc, Jean-Baptiste Arnoux, Irène Netchine, Apolline Imbard, Pascale de Lonlay
OBJECTIVES: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong protein-restricted diet. We aimed to investigate: 1/ whether IAAMDs was associated with growth, pubertal, bone mineral apparent density (BMAD) or body composition impairments; 2/ associations linking height, amino-acid mixture (AAM), plasma amino-acids and IGF1 concentrations. DESIGN: Retrospective longitudinal study of 213 patients with neonatal-onset urea cycle disorders (UCD,n = 77), organic aciduria (OA,n = 89), maple syrup urine disease (MSUD,n = 34), or tyrosinaemia type 1 (n = 13)...
January 1, 2024: Molecular Genetics and Metabolism