{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T15:02:16Z","timestamp":1790089336621,"version":"4.0.1"},"reference-count":32,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:00:00Z","timestamp":1727740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Background\/Objectives: Adrenoleukodystrophy (X-ALD) is a metabolic disorder caused by dysfunctional peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFAs). A VLCFA-restricted Mediterranean diet has been proposed for patients and carriers to reduce daily VLCFA intake. Methods: We retrospectively evaluated plasma VLCFAs in a cohort of 36 patients and 20 carriers at baseline and after 1 year of restricted diet. Results: At T1, compliant adult patients had significantly lower C26:0 levels [1.7 (1.2) vs. 2.5 \u00b5mol\/L (1.7), p &lt; 0.05], C26:0\/C22:0 ratio [0.04 (0.02) vs. 0.06 (0.03), p &lt; 0.05], and triglycerides [93 (56.5) vs. 128 mg\/dL (109.5), p &lt; 0.05] than non-compliant ones. C26:0 [2.4 (1.7) vs. 1.7 (1.2) \u00b5mol\/L, p &lt; 0.05], the C26:0\/C22:0 ratio [0.06 (0.04) vs. 0.04 (0.02), p &lt; 0.05], and cholesterol [173.5 (68.3) mg\/dL vs. 157 (54) mg\/dL, p &lt; 0.05] were significantly reduced in compliant adult patients at T1 vs. baseline. As for carriers, the C26:0\/C22:0 ratio was lower [0.02 (0.01) vs. 0.04 (0.009), p &lt; 0.05] at T1 in compliant carriers, as compared to non-compliant ones. The C26:0\/C22:0 [0.03 (0.02) vs. 0.02 (0.01) p &lt; 0.05] and C24:0\/C22:0 [1.0 (0.2) vs. 0.9 (0.3), p &lt; 0.05] ratios were significantly decreased at T1 vs. T0. Conclusions: A VLCFA-restricted diet is effective in reducing plasma VLCFA levels and their ratios and must be strongly encouraged as support to therapy.<\/jats:p>","DOI":"10.3390\/nu16193341","type":"journal-article","created":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T11:08:47Z","timestamp":1727780927000},"page":"3341","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Nutritional Counseling and Mediterranean Diet in Adrenoleukodystrophy: A Real-Life Experience"],"prefix":"10.3390","volume":"16","author":[{"given":"Maria Rita","family":"Spreghini","sequence":"first","affiliation":[{"name":"UOC of Endocrinology and Diabetology, Bambino Ges\u00f9 Children\u2019s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoletta","family":"Gianni","sequence":"additional","affiliation":[{"name":"Research Unit for Predictive and Preventive Medicine, Bambino Ges\u00f9 Children\u2019s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Todisco","sequence":"additional","affiliation":[{"name":"UOC of Endocrinology and Diabetology, Bambino Ges\u00f9 Children\u2019s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy"},{"name":"Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, 1011 Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Rizzo","sequence":"additional","affiliation":[{"name":"UOC of Metabolic Diseases, Bambino Ges\u00f9 Children\u2019s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5647-7519","authenticated-orcid":false,"given":"Marco","family":"Cappa","sequence":"additional","affiliation":[{"name":"Research Unit for Innovative Therapies for Endocrinopathies, Bambino Ges\u00f9 Children\u2019s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6581-975X","authenticated-orcid":false,"given":"Melania","family":"Manco","sequence":"additional","affiliation":[{"name":"Research Unit for Predictive and Preventive Medicine, Bambino Ges\u00f9 Children\u2019s Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,1]]},"reference":[{"key":"ref_1","unstructured":"OMIM (2024, June 02). Online Mendelian Inheritance in Man. Available online: https:\/\/omim.org\/entry\/300100?search=x.ald&highlight=%22x%20ald%22%2Cxald."},{"key":"ref_2","unstructured":"OMAR (2024, June 02). Osservatorio Malattie Rare. Available online: https:\/\/www.osservatoriomalattierare.it\/malattie-rare\/adrenoleucodistrofia\/16693-adrenoleucodistrofia-la-terapia-di-supporto-dietetico-e-un-ausilio-fondamentale."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1750-1172-7-51","article-title":"X-linked adrenoleukodystrophy (X-ALD): Clinical presentation and guidelines for diagnosis, follow-up and management","volume":"7","author":"EnEngelen","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Cappa, M., Todisco, T., and Bizzarri, C. (2023). X-linked Adrenoleukodystrophy and primary adrenal insufficiency. Front. Endocrinol., 14.","DOI":"10.3389\/fendo.2023.1309053"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1136\/jnnp.63.1.4","article-title":"X linked adrenoleukodystrophy: Clinical presentation, diagnosis, and therapy","volume":"63","author":"Assies","year":"1997","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/jdn.10003","article-title":"X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies","volume":"80","author":"Turk","year":"2020","journal-title":"Int. J. Dev. Neurosci."},{"key":"ref_7","first-page":"185","article-title":"Adrenoleucodistrofia: Genetica, fenotipi, patogenesi e trattamento [Adrenoleukodystrophy: Genetics, phenotypes, pathogenesis and treatment]","volume":"35","author":"Avellino","year":"1999","journal-title":"Ann. Dell\u2019istituto Super. Sanit\u00e0"},{"key":"ref_8","unstructured":"de Santos, E.D., Pel\u00e1ez, R.B., and Casas, N.V. (2017). Trastornos cong\u00e9nitos del metabolismo de los l\u00edpidos: Adrenoleucodistrofia. Dieta controlada en \u00e1cidos grasos [Congenital disorders of lipid metabolism: Adrenoleukodystrophy. Fatty acid controlled diet]. Dietoterapia, Nutrici\u00f3n Cl\u00ednica y Metabolismo [Diet Therapy, Clinic Nutrition and Metabolism], SEEN (Sociedad Espa\u00f1ola de Endocrinolog\u00eda y Nutrici\u00f3n). [3rd ed.]."},{"key":"ref_9","unstructured":"Raymond, G.V., Moser, A.B., and Fatemi, A. (1999). X-Linked Adrenoleukodystrophy, Synonym: X-ALD. Gene Reviews, University of Washington."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/ene.13816","article-title":"Natural history of a cohort of ABCD1 variant female carriers","volume":"26","author":"Schirinzi","year":"2019","journal-title":"Eur. J. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1172\/JCI113292","article-title":"Effects of long-chain, saturated fatty acids on membrane microviscosity and adrenocorticotropin responsiveness of human adrenocortical cells in vitro","volume":"81","author":"Whitcomb","year":"1988","journal-title":"J. Clin. Investig."},{"key":"ref_12","unstructured":"OMAR (2023, April 03). Osservatorio Malattie Rare. Available online: https:\/\/www.osservatoriomalattierare.it\/malattie-rare\/adrenoleucodistrofia."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1007\/s10545-011-9432-3","article-title":"A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers","volume":"35","author":"Cappa","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_14","first-page":"168","article-title":"Adrenoleucodistrofia: L\u2019evoluzione della terapia [Adrenoleukodystrophy: Evolution of therapy]","volume":"23","author":"Cappa","year":"2022","journal-title":"L\u2019Endocrinologo"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/0378-4347(91)80573-U","article-title":"Determination of very-long-chain fatty acids in plasma by a simplified gas chromatographic-mass spectrometric procedure","volume":"562","author":"Caruso","year":"1991","journal-title":"J. Chromatogr."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1093\/ajcn\/40.2.277","article-title":"The design of a diet restricted in saturated very long-chain fatty acids: Therapeutic application in adrenoleukodystrophy","volume":"40","author":"Moser","year":"1984","journal-title":"Am. J. Clin. Nutr."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"633","DOI":"10.3177\/jnsv.34.633","article-title":"Hexacosanoate contents in Japanese common foods","volume":"34","author":"Kawahara","year":"1988","journal-title":"J. Nutr. Sci. Vitaminol."},{"key":"ref_18","unstructured":"(2023, July 20). Consiglio per la Ricerca in Agricoltura e L\u2019analisi dell\u2019Economia Agraria (CREA), by Marletta L, Camilli, E. Available online: https:\/\/www.alimentinutrizione.it\/sezioni\/tabelle-nutrizionali."},{"key":"ref_19","unstructured":"(2023, July 20). Food Composition Database for Epidemiological Studies in Italy (Banca Dati di Composizione degli Alimenti per Studi Epidemiologici in Italia\u2014BDA), by Gnagnarella P, Salvini S, Parpinel, M. Versione 1. Available online: https:\/\/bda.ieo.it\/."},{"key":"ref_20","unstructured":"U.S. Department of Agriculture (USDA), Agricultural Research Service (2023, July 20). FoodData Central, Available online: https:\/\/fdc.nal.usda.gov\/."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1104\/pp.54.5.670","article-title":"Structure and Biosynthesis of Cuticular Lipids: Hydroxylation of Palmitic Acid and Decarboxylation of C(28), C(30), and C(32) Acids in Vicia faba Flowers","volume":"54","author":"Kolattukudy","year":"1974","journal-title":"Plant Physiol."},{"key":"ref_22","unstructured":"Bowman, S.A., Martin, C.L., Carlson, J.L., Clemens, J.C., Lin, B.H., and Moshfegh, A.J. (2023, May 18). Food Intakes Converted to Retail Commodities Databases 2003-08: Methodology and User Guide, Available online: https:\/\/www.ars.usda.gov\/ARSUserFiles\/80400530\/pdf\/ficrcd\/Documentation%20FICRCD%202003_08.pdf."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/ana.410210305","article-title":"A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients","volume":"21","author":"Moser","year":"1987","journal-title":"Ann. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1212\/WNL.39.11.1415","article-title":"Dietary erucic acid therapy for X-linked adrenoleukodystrophy","volume":"39","author":"Rizzo","year":"1989","journal-title":"Neurology"},{"key":"ref_25","unstructured":"Raymond, G., Engelen, M., and Kemp, S. (2023, May 18). Lorenzo\u2019s Oil. Available online: https:\/\/adrenoleukodystrophy.info\/treatment-options\/lorenzos-oil."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/ana.410210304","article-title":"Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels","volume":"21","author":"Rizzo","year":"1987","journal-title":"Ann. Neurol."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Bonaventura, E., Alberti, L., Lucchi, S., Cappelletti, L., Fazzone, S., Cattaneo, E., Bellini, M., Izzo, G., Parazzini, C., and Bosetti, A. (2023). Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring. Front. Neurol., 13.","DOI":"10.3389\/fneur.2022.1072256"},{"key":"ref_28","unstructured":"Salzman, R., and Kemp, S. (2023, June 10). Newborn Screening. Available online: https:\/\/adrenoleukodystrophy.info\/clinical-diagnosis\/ald-newborn-screening."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/jimd.12571","article-title":"Sex-specific newborn screening for X-linked adrenoleukodystrophy","volume":"46","author":"Albersen","year":"2023","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Barendsen, R.W., Dijkstra, I.M.E., Visser, W.F., Alders, M., Bliek, J., Boelen, A., Bouva, M.J., van der Crabben, S.N., Elsinghorst, E., and van Gorp, A.G.M. (2020). Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor. Front. Cell Dev. Biol., 8.","DOI":"10.3389\/fcell.2020.00499"},{"key":"ref_31","unstructured":"SCAN-Studie (2023, June 25). Screening op Adrenoleukodystrofie (ALD) in Nederland via de Hielprik [Screening for Adrenoleukodystrophy (ALD) in the Netherlands via the Heel Prick]. Available online: https:\/\/scanstudie.nl."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1146\/annurev.nu.15.070195.002115","article-title":"Dietary management of X-linked adrenoleukodystrophy","volume":"15","author":"Moser","year":"1995","journal-title":"Annu. Rev. Nutr."}],"container-title":["Nutrients"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6643\/16\/19\/3341\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:08:47Z","timestamp":1760112527000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6643\/16\/19\/3341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,1]]},"references-count":32,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2024,10]]}},"alternative-id":["nu16193341"],"URL":"https:\/\/doi.org\/10.3390\/nu16193341","relation":{},"ISSN":["2072-6643"],"issn-type":[{"value":"2072-6643","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,1]]}}}