{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:33:16Z","timestamp":1777393996058,"version":"3.51.4"},"reference-count":89,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T00:00:00Z","timestamp":1746489600000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100031478","name":"NextGenerationEU","doi-asserted-by":"publisher","award":["Project MNESYS (PE0000006) \u2010 A Multiscale integr"],"award-info":[{"award-number":["Project MNESYS (PE0000006) \u2010 A Multiscale integr"]}],"id":[{"id":"10.13039\/100031478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca Corrente 2023"],"award-info":[{"award-number":["Ricerca Corrente 2023"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Duchenne muscular dystrophy (DMD) is an X\u2010linked disease caused by the absence of functional dystrophin in the muscle cells. Recent untargeted metabolomics studies identified amino acid metabolism alterations as biochemical pathways potentially involved in DMD pathogenesis. Here, in a well\u2010characterised cohort of DMD children and paediatric controls, we investigated by high\u2010performance liquid chromatography (HPLC) the serum profile of a selected pool of amino acids in D\u2010 and L\u2010configuration, including L\u2010glutamate, L\u2010glutamine, glycine, L\u2010aspartate, D\u2010aspartate, L\u2010asparagine, L\u2010serine, and D\u2010serine. These amino acids are known to modulate neurotransmission and to play essential roles in energy and skeletal muscle metabolism. HPLC determinations highlighted a general amino acid deregulation in DMD compared to controls, including lower levels of L\u2010aspartate, L\u2010asparagine, D\u2010serine, L\u2010glutamine, and glycine and D\u2212\/Total serine ratio. In control subjects, we observed a significant positive correlation between L\u2010glutamine and age, which lacked in affected children. Conversely, in DMD, we observed (i) a negative correlation of L\u2010glutamate and L\u2010aspartate with serum creatinine and creatine kinase levels; (ii) a direct correlation of serum L\u2010glutamine\/L\u2010glutamate ratio with the fat\u2010free mass index (as determined by dual energy X\u2010ray absorptiometry) and with specific motor function scores (North Star Ambulatory Assessment); and (iii) no correlations between glucocorticoid treatment or cognitive function and the serum amino acid profile. Our study highlights significant correlations between serum L\u2010glutamate levels, L\u2010glutamine\/L\u2010glutamate ratio, and the multidimensional measures of muscle wasting and motor impairment, suggesting that peripheral glutamine\u2010glutamate metabolism can be a suitable biomarker of disease severity and progression in DMD patients.<\/jats:p>","DOI":"10.1111\/jcmm.70495","type":"journal-article","created":{"date-parts":[[2025,5,7]],"date-time":"2025-05-07T00:39:37Z","timestamp":1746578377000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["D\u2010 and L\u2010Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy"],"prefix":"10.1111","volume":"29","author":[{"given":"Martina","family":"Garofalo","sequence":"first","affiliation":[{"name":"Department of Environmental, Biological and Pharmaceutical Sciences and Technologies Universit\u00e0 Degli Studi Della Campania 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