IMPE2023 Free Communications Miscellaneous Growth (4 abstracts)
Inborn Errors of Protein Metabolism: Longitudinal Data on Growth, Puberty, Bone Mineralisation, and Body Composition
Kanetee Busiah 1,2 , Célina Roda 3 , Anne-Sophie Crosnier 4 , Anaïs Brassier 5 , Aude Servais 6 , Camille Wicker 5 , 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 10,9 & Pascale de Lonlay 5,11
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, Filière G2M, MetabERN, Université Paris Cité, Paris, France. 3Université Paris Cité, HERA Team, CRESS, INSERM, INRAE, F-75004, Paris, France. 4Endocrine Function Testing Department, Assistance Publique-Hôpitaux de Paris, Paris, France. 5Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, Paris, France. 6Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Filière G2M, MetabERN, paris, France. 7Metabolic Biochemistry, Necker Enfants-Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, Filière G2M, MetabERN, Medical School, 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. 10Endocrine Function Testing Department, Assistance Publique-Hôpitaux de Paris, Trousseau University Hospital, Paris, France. 11INSERM U1151, Necker-Enfants Malades Institute (INEM), Paris, France
Background: Many inherited amino-acid metabolism disorders (IAAMDs) require lifelong restriction of natural dietary proteins. An adequate protein intake is crucial to ensure normal body development, notably during puberty. We investigated whether a protein-restricted diet was associated with growth, pubertal, bone mineral density (BMD) or body composition impairments.
Methods: In this retrospective longitudinal study, we collected growth parameters, data on pubertal status, BMD, body composition, dietary intake, and IGF1 concentrations throughout growth. We investigated associations linking height, amino acid mixture (AAM), amino acids and IGF1 concentrations.
Findings: We included 213 patients (51.6% females) with neonatal-onset urea cycle disorders (n=77), organic aciduria (n=89), maple syrup urine disease (n=34), or tyrosinaemia type 1 (n=13). Overall final height (n=69) was below target height: -0.9(1.4) vs. -0.1(0.9)SD, P<0.0001. We found a final Height ≤-2SD in 17(25%) patients. Height≤-2SD was more frequent in the pubertal subgroup than in the early-infancy and prepubertal subgroups: 32(23.5%) vs. 13(6.9%), P=0.0017; and vs. 18(10.7%), P<0.0001. Pubertal delay was frequent (n=24; 26.7% patients) and more common in males: 14/32(43.8%) vs. 10/59(17.0%), P=0.0056. BMI Z-score and total protein intake (g/kg/day) was not different between patients with pubertal delay than those with no 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. In the pubertal subgroup, height was lower in patients with vs. without AAM: -1.22(1.40) vs. -0.63(1.46), P=0.018. Overall height was negatively associated with AAM: β, -1.228; 95%-confidence interval (95%CI), -1.716 to 0.741; P<0.0001. and positively associated with isoleucine concentration: β, 0.008; 95%CI, 0.003 to 0.012; P=0.001. Median (IQR) isoleucine concentrations was lower in OA patients with vs. without AAM: 40(23) vs. 60(25)µmol/L (P=0.0179). IGF1 did not correlated with isoleucine. Total body BMD Z-score was≤-2.0 in 26(34%) patients. Lean mass index was significantly lower than fat mass index: 2.03(1.15) vs. -0.44(0.89), P<0.0001.
Interpretation: In patients with IAAMDs growth retardation worsen during puberty which is often delayed. The mechanism might involve AAM use and lower isoleucine concentration, independently of the growth hormone pathway. We recommend close monitoring during puberty.
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