ESPE2023 Top 20 Posters Section (20 abstracts)
Pubertal origin of growth retardation in Inborn Errors of Protein Metabolism: A longitudinal cohort study
Kanetee Busiah 1,2 , Célina Roda 3 , Anne-Sophie Crosnier 4 , Anaïs Brassier 5 , Camille Wicker 5,6 , Chris Ottolenghi 7 , Clément Pontoizeau 7 , Jean-Claude Souberbielle 8 , Marie-Liesse Piketty 8 , Laurence Perin 4 , Yves Le Bouc 4,9 , Jean-Baptiste Arnoux 5 , Apolline Imbard 7 , Irène Netchine 4,9 & Pascale de Lonlay 5,10
1Paediatric endocrinology, diabetology and obesity unit, Women-Mothers-Children Department, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland. 2Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. 3Université Paris Cité, HERA Team, CRESS, INSERM, INRAE, F-75004, Paris, France. 4Endocrine function testing department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France. 5Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Université Paris Cité, Paris, France. 6Pediatric Inherited Metabolic Diseases department, University Hospital of Strasbourg- Hautepierre, Strasbourg, France. 7Metabolic biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, Université Paris Cité, Paris, France. 8Functional testing department, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Teaching Hospital, Paris, France. 9Sorbonne University, INSERM, Saint Antoine research centre, Assistance Publique-Hôpitaux de Paris, Paris, France. 10INSERM U1151, Necker-Enfants Malades Institute (INEM), Paris, France
Background: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong restriction of natural dietary proteins. Nutritional amino-acid mixtures (AMM) free of the poorly metabolised amino-acids by the enzyme block, improve nutrition. An adequate protein intake is crucial to ensure normal body development, notably during puberty. We aimed to: 1/ describe growth and puberty in IAAMDs 2/ investigate associations linking height, IGF1 and IGFBP3 with AAM and plasma amino-acids.
Methods: Retrospective longitudinal study of 213 patients with urea cycle disorders (UCD,n=77), organic aciduria (OA,n=89), maple syrup urine disease (MSUD,n=34), or tyrosinaemia type 1 (n=13). We collected growth parameters, pubertal status, dietary intake, IGF1 and IGFBP3 concentrations throughout growth.
Findings: Overall final height (n=69) was below target height: -0•9(1•4) vs. -0•1(0•9)SD, P<0•0001. Final Height was≤-2SD in 25% patients. Height≤-2SD was more frequent during puberty than during early-infancy or pre-puberty: 23•5% vs. 6•9%, P=0•0017; and vs. 10•7%, P<0•0001. Pubertal delay was frequent (26•7%) and more common in males: 43•8) vs. 17•0), P=0•0056. BMI Z-score and protein intake (g/kg/day) were not different between patients with vs. without pubertal delay: 0•5(1•5) vs. 0•5(1•6), P=0•94 and 0•7(0•2) vs. 0•8(0•4), P=0•33 respectively. Overall height(SD) correlated positively with isoleucine concentration: β, 0•008; 95%CI, 0•003 to 0•012; P=0•001, and negatively with AAM: β, -1•228; 95%CI, -1•716 to 0•741; P<0•0001. In OA, height was lower during puberty in patients with vs. without AAM: -1.75(1.30) vs. -0.33(1.55)SD, P=0.0004, and median(IQR) isoleucine and valine concentrations(µmol/L) were lower in patients with vs. without AAM supplementation: 40(23) vs. 60(25) (P=0.0179) and 138(92) vs. 191(63) (P=0.0142), respectively. In UCD and MSUD, height (SD) correlated negatively with protein intake: -0.008; 95%CI, -0.015 to 0.001; P=0.0309; and β, -0.001; 95%CI, -0.018 to 0.003; P=0.0080, respectively, and not with AAM. During puberty, mean IGF1 was -0.7(1.4)SD and mean IGFBP3 was -0.2(1)SD. IGF1 correlated with tryptophan and not with isoleucine. IGFBP3 did not correlate with plasma amino-acid.
Interpretation: In IAAMDs growth retardation worsen during puberty which was delayed. The mechanism might involve AAM use and lower isoleucine concentration, independently of the IGF1 pathway. We recommend close monitoring of diet during puberty.
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