{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T12:17:22Z","timestamp":1781785042716,"version":"3.54.5"},"reference-count":69,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,9,20]],"date-time":"2023-09-20T00:00:00Z","timestamp":1695168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["analyticalsciencejournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Biomedical Chromatography"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fifty diabetic nephropathy (DN) children with type 1 diabetes mellitus (T1DM) and 50 healthy matched controls were included. Chromatographic assays of 14 amino acids, free carnitine and 27 carnitine esters using high\u2010performance liquid chromatography\/electrospray ionization\u2013mass spectroscopy, and genetic testing for JAK2<jats:sup>v617f<\/jats:sup> mutation using real\u2010time PCR were performed. Patients had significantly lower levels of tyrosine, branched\u2010chain amino acids (BCAAs), and BCAA\/AAA (aromatic chain amino acids) ratios, glycine, arginine, ornithine, free carnitine and some carnitine esters (C5, 6, 12 and 16) and higher phenylalanine, phenylalanine\/tyrosine ratio and C18 compared with the controls and in the macro\u2010albuminuria vs. the microalbuminuria group (<jats:italic>p<\/jats:italic>\u00a0&lt;\u20090.05 for all) except for free carnitine. Plasma carnitine was negatively correlated with eGFR (<jats:italic>r\u2009=<\/jats:italic>\u00a0\u22120.488, <jats:italic>p<\/jats:italic>\u00a0=\u20090.000). There were significant positive correlations between tyrosine with UACR ratio (<jats:italic>r\u2009=<\/jats:italic>\u00a00.296, <jats:italic>p<\/jats:italic>\u00a0=\u20090.037). The plasma BCAA\/AAA ratio showed significant negative correlations with UACR (<jats:italic>r\u2009=<\/jats:italic>\u00a0\u22120.484, <jats:italic>p<\/jats:italic>\u00a0=\u20090.000). There was a significantly higher frequency of the JAK2<jats:sup>V617F<\/jats:sup> gene mutation in diabetic nephropathy patients compared with the control group and in macro\u2010albuminuria than the microalbuminuria group (<jats:italic>p<\/jats:italic>\u00a0=\u20090.000) for both. When monitoring children with T1DM, plasma free amino acids and acylcarnitine profiles should be considered, especially if they have tested positive for JAK2<jats:sup>V617F<\/jats:sup> for the early diagnosis of DN.<\/jats:p>","DOI":"10.1002\/bmc.5747","type":"journal-article","created":{"date-parts":[[2023,9,20]],"date-time":"2023-09-20T05:00:39Z","timestamp":1695186039000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Profile of plasma free amino acids, carnitine and acylcarnitines, and JAK2<sup>v617f<\/sup> mutation as potential metabolic markers in children with type 1 diabetic nephropathy"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2698-9438","authenticated-orcid":false,"given":"Mohammed H.","family":"Hassan","sequence":"first","affiliation":[{"name":"Department of Medical Biochemistry, Faculty of Medicine South Valley University  Qena Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omyma","family":"Galal","sequence":"additional","affiliation":[{"name":"Medical Physiology Department, Faculty of Medicine Assiut University  Assiut Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hala M.","family":"Sakhr","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine South Valley University  Qena Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eman B.","family":"Kamaleldeen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Assiut University  Assiut Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia Farouk","family":"Zekry","sequence":"additional","affiliation":[{"name":"Medical Physiology Department, Faculty of Medicine South Valley University  Qena Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekram","family":"Fateen","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics National Research Center  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana","family":"Toghan","sequence":"additional","affiliation":[{"name":"Medical Physiology Department, Faculty of Medicine South Valley University  Qena Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12698"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3945\/jn.108.103754"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-014-2796-5"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.21608\/svuijm.2022.165289.1419"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.2147\/DMSO.S201525"},{"issue":"2","key":"e_1_2_10_7_1","first-page":"254","article-title":"Early\u2010onset microalbuminuria in children with type 1 diabetes in Kuwait","volume":"21","author":"Al\u2010Eisa A. 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