{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T12:22:15Z","timestamp":1768738935067,"version":"3.49.0"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"4","funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["5T32DK007699"],"award-info":[{"award-number":["5T32DK007699"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0652_abs_001_w2aab3b7c63b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>X-linked adrenoleukodystrophy (ALD) affects up to 25% of boys diagnosed with adrenal insufficiency in childhood. Because early identification of these individuals can be lifesaving, all boys with new-onset primary adrenal insufficiency should be tested for ALD with a plasma very long-chain fatty acid (VLCFA) level. While plasma VLCFA is\u00a0a diagnostic test with high sensitivity and specificity, false-positive results have been reported in individuals on a\u00a0ketogenic diet.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0652_abs_002_w2aab3b7c63b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We present a case of an 11-year-old boy with new-onset primary adrenal insufficiency due to autoimmune adrenalitis who was initially found to have elevated VLCFA levels, suggestive of ALD, that normalized on repeat testing. <\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0652_abs_003_w2aab3b7c63b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>As advances in gene therapy and newborn screening for ALD expand, VLCFA testing may increase, and clinicians should be aware that testing during the initial presentation of primary adrenal insufficiency may lead to false-positive results and associated psychosocial distress.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0652","type":"journal-article","created":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T10:48:48Z","timestamp":1608634128000},"page":"517-520","source":"Crossref","is-referenced-by-count":2,"title":["False-positive very long-chain fatty acids in a case of autoimmune adrenal insufficiency"],"prefix":"10.1515","volume":"34","author":[{"given":"Jia","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Division of Endocrinology, Boston Children\u2019s Hospital , Boston , MA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David T.","family":"Breault","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Division of Endocrinology, Boston Children\u2019s Hospital , Boston , MA , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,12,14]]},"reference":[{"key":"2023040101452966437_j_jpem-2020-0652_ref_001_w2aab3b7c63b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Auron, M, Raissouni, N. Adrenal insufficiency. Pediatr Rev 2015;36:92\u2013102. quiz 3, 29. https:\/\/doi.org\/10.1542\/pir.36-3-92.","DOI":"10.1542\/pir.36-3-92"},{"key":"2023040101452966437_j_jpem-2020-0652_ref_002_w2aab3b7c63b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Kemp, S, Huffnagel, IC, Linthorst, GE, Wanders, RJ, Engelen, M. Adrenoleukodystrophy\u00a0\u2013 neuroendocrine pathogenesis and redefinition of natural history. Nat Rev Endocrinol 2016;12:606\u201315. https:\/\/doi.org\/10.1038\/nrendo.2016.90.","DOI":"10.1038\/nrendo.2016.90"},{"key":"2023040101452966437_j_jpem-2020-0652_ref_003_w2aab3b7c63b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Theda, C, Woody, RC, Naidu, S, Moser, AB, Moser, HW. Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion. J Pediatr 1993;122:724\u20136. https:\/\/doi.org\/10.1016\/s0022-3476(06)80013-2.","DOI":"10.1016\/S0022-3476(06)80013-2"},{"key":"2023040101452966437_j_jpem-2020-0652_ref_004_w2aab3b7c63b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Stradomska, TJ, Bachanski, M, Pawlowska, J, Syczewska, M, Stolarczyk, A, Tylki-Szymanska, A. The impact of a ketogenic diet and liver dysfunction on serum very long-chain fatty acids levels. Lipids 2013;48:405\u20139. https:\/\/doi.org\/10.1007\/s11745-013-3761-y.","DOI":"10.1007\/s11745-013-3761-y"},{"key":"2023040101452966437_j_jpem-2020-0652_ref_005_w2aab3b7c63b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Laureti, S, Casucci, G, Santeusanio, F, Angeletti, G, Aubourg, P, Brunetti, P. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison\u2019s disease in young adult male patients. J Clin Endocrinol Metab 1996;81:470\u20134. https:\/\/doi.org\/10.1210\/jcem.81.2.8636252.","DOI":"10.1210\/jcem.81.2.8636252"},{"key":"2023040101452966437_j_jpem-2020-0652_ref_006_w2aab3b7c63b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Huffnagel, IC, Laheji, FK, Aziz-Bose, R, Tritos, NA, Marino, R, Linthorst, GE, et al.. The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an International collaboration. J Clin Endocrinol Metab 2019;104:118\u201326. https:\/\/doi.org\/10.1210\/jc.2018-01307.","DOI":"10.1210\/jc.2018-01307"},{"key":"2023040101452966437_j_jpem-2020-0652_ref_007_w2aab3b7c63b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Moser, AB, Kreiter, N, Bezman, L, Lu, SE, Raymond, GV, Naidu, S, et al.. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. 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