1 - NOVA Medical School, Universidade NOVA de Lisboa, Portugal
2 - Unidade de Doenças Metabólicas, Reference Centre of Inherited Metabolic Diseases, Unidade Local de Saúde São José, Centro Clínico Académico de Lisboa, Portugal
3 - CHRC – Comprehensive Health Research Centre, NOVA Medical School, Universidade NOVA de Lisboa, Portugal
4 - CINTESIS – Center for Health Technology and Services Research, NOVA Medical School, Lisboa, Portugal
5 - Nutrition Unit, Unidade Local de Saúde São José, Centro Clínico Académico de Lisboa, Portugal
6 - Laboratory of Metabolism and Genetics, Department of Pharmaceutical Sciences and Medicines, Faculty of Pharmacy, Universidade de Lisboa, Portugal
7 - Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK
8 - Research Unit, Unidade Local de Saúde São José, Lisboa, Portugal
9 - Neonatal Intensive Care Unit, Unidade Local de Saúde São José, Centro Clínico Académico de Lisboa, Portugal
- Poster no Annual Symposium - Society For The Study Of Inborn Errors Of Metabolism, Porto, 20 de agosto a 3 de setembro de 2024
Resumo:
Background: Patients with maple syrup urine disease (MSUD) need nutritional intervention to favour anabolism and avoid brain toxicity. Body composition assessment can contribute to indirectly monitor the protein accretion.
Case Study / Methods: A newborn with genetic diagnosis of MSUD at 27 weeks gestation, was born from an uneventful pregnancy at 40 weeks. A leucine restricted diet was started immediately after birth, allowing breastfeeding. Daily plasma amino acids were measured during first postnatal 10 days. After discharge at 10th postnatal day, metabolic control was measured using DBS (n=27 samples). Body composition was measured using air displacement plethysmography (Pea Pod, Cosmed, Italy) at 3, 5, 8, 10, 12 and 15 weeks of age. Percentage of fat mass (%FM) and fat free mass (%FFM) were given by the equipment. FM, FFM, and %FM z-scores were calculated using data and equations reported in the literature.
Results: Until 15 weeks of age, leucine, protein equivalent from BCAA-free protein substitute and total protein intakes varied as 198-380mg/day, 1.21-1.37g/kg/day and 1.73-2.02g/kg/day, respectively. Plasma leucine, valine and isoleucine during the first 10 postnatal days were (mean±SD): 116.6±30.9mM, 308.6±162.8mM and 158.2±75.0mM, respectively. Thereafter, until 15 weeks of age, the respective values were (mean±SD): 146.7±99.0mM, 514.5±179.4mM, 436.3±92.1mM. From 3rd to 15th weeks of age the values (z-score) of weight, length, FM, and FFM varied from 3.866kg (-0.51), 52.2cm (-0.77), 0.463kg (-0.85) and 3.402 (0.01) to 5.948kg (-0.99), 61cm (-0.77), 1.027kg (-1.60) and 4.921kg (0.19), respectively. From 1st to last assessment the %FM (z-score) ranged from 12.0 (-1.07) to 17.3 (-1.49).
Discussion/Conclusion: Despite a tendency for weight and height z-score reduction, an increase in FFM contribution to total body mass was observed. Body composition analysis in infants with MSUD may be helpful to monitor the protein accretion as a measure of anabolic response.