{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T02:00:58Z","timestamp":1772503258509,"version":"3.50.1"},"reference-count":86,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T00:00:00Z","timestamp":1734048000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Health Department of the Basque Government","award":["2023222005"],"award-info":[{"award-number":["2023222005"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications. Mortality is close to 100% before one year of life in the absence of specific treatment. The later-onset form can be diagnosed in childhood or adulthood and is characterized by chronic liver injury and\/or lipid profile alterations. When LAL-D is suspected, enzyme activity should be determined to confirm the diagnosis, with analysis from a dried blood spot sample being the quickest and most reliable method. In infantile-onset LAL-D, the initiation of enzyme replacement therapy (sebelipase \u03b1) and careful nutritional management with a low-lipid diet is very urgent, as prognosis is directly linked to the early initiation of specific treatment. In recent years, our knowledge of the management of LAL-D has increased considerably, with improvements regarding the initial enzyme replacement therapy dose and careful nutritional treatment with a low-lipid diet to decrease lipid deposition and systemic inflammation, leading to better outcomes. In this narrative review we offer a quick guide for the initial management of infantile-onset LAL-D.<\/jats:p>","DOI":"10.3390\/nu16244309","type":"journal-article","created":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T10:34:12Z","timestamp":1734086052000},"page":"4309","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5663-537X","authenticated-orcid":false,"given":"Javier","family":"de las Heras","sequence":"first","affiliation":[{"name":"Division of Pediatric Metabolism, Cruces University Hospital, CIBER-ER, Metab-ERN, University of the Basque Country (UPV\/EHU), Biobizkaia Health Research Institute, 48903 Bilbao, Spain"}]},{"given":"Carolina","family":"Almohalla","sequence":"additional","affiliation":[{"name":"Unidad de Hepatolog\u00eda, Hospital Universitario R\u00edo Hortega, 47012 Valladolid, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4008-3747","authenticated-orcid":false,"given":"Javier","family":"Blasco-Alonso","sequence":"additional","affiliation":[{"name":"Unidad de Diagn\u00f3stico y Tratamiento de Enfermedades Metab\u00f3licas Hereditarias, UGC Pediatr\u00eda, Hospital Regional Universitario de M\u00e1laga, 29010 M\u00e1laga, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8843-3799","authenticated-orcid":false,"given":"Mafalda","family":"Bourbon","sequence":"additional","affiliation":[{"name":"Grupo de Investiga\u00e7\u00e3o Cardiovascular, Departamento de Promo\u00e7\u00e3o da Sa\u00fade e Preven\u00e7\u00e3o de Doen\u00e7as n\u00e3o Transmiss\u00edveis, Instituto Nacional de Sa\u00fade Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal"},{"name":"BioISI, Biosystems & Integrative Sciences Institute, Faculdade de Ci\u00eancias, Universidade de Lisboa, 1649-004 Lisboa, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4861-9905","authenticated-orcid":false,"given":"Maria-Luz","family":"Couce","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Health Research Institute of Santiago de Compostela (IDIS), Hospital Cl\u00ednico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain"}]},{"given":"Mar\u00eda Jos\u00e9","family":"de Castro L\u00f3pez","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit, St Mary\u2019s Hospital, Manchester University Foundation Trust, University of Manchester, Manchester M13 9WL, UK"}]},{"given":"M\u00aa Concepci\u00f3n","family":"Garc\u00eda Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"NeuroMetabolic Unit, Pediatr\u00eda, Hospital Universitario Miguel Servet, Aragon Health Research Institute (IIS Arag\u00f3n), 50009 Zaragoza, Spain"}]},{"given":"David","family":"Gil Ortega","sequence":"additional","affiliation":[{"name":"Unidad de Gastroenterolog\u00eda, Hepatolog\u00eda y Nutrici\u00f3n Pedi\u00e1trica, Hospital Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1098-3891","authenticated-orcid":false,"given":"Luisa","family":"Gonz\u00e1lez-Di\u00e9guez","sequence":"additional","affiliation":[{"name":"Liver Unit, Division of Gastroenterology and Hepatology, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain"}]},{"given":"Silvia","family":"Meavilla","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Gastroenterology, Hepatology and Nutrition Department, Sant Joan de D\u00e9u Hospital, 08950 Barcelona, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-1821","authenticated-orcid":false,"given":"Ana","family":"Moreno-\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology, Hepatology and Nutrition Unit, Department of Pediatrics, A Coru\u00f1a University Hospital, 15006 A Coru\u00f1a, Spain"}]},{"given":"Jos\u00e9","family":"Pastor-Rosado","sequence":"additional","affiliation":[{"name":"Lipid Unit, Department of Pediatrics, Hospital General Universitario de Elche, Universidad Miguel Hernandez de Elche, 03202 Elche, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4992-1305","authenticated-orcid":false,"given":"Paula","family":"S\u00e1nchez-Pintos","sequence":"additional","affiliation":[{"name":"Metabolic Unit, Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Health Research Institute of Santiago de Compostela (IDIS), Hospital Cl\u00ednico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain"}]},{"given":"Irene","family":"Serrano-Gonzalo","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Espa\u00f1ola Para el Estudio y Terap\u00e9utica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50009 Zaragoza, Spain"},{"name":"GIIS-012 Group, Aragon Health Research Institute (IIS Arag\u00f3n), 50009 Zaragoza, Spain"}]},{"given":"Eduardo","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Spanish LAL-D Patient Organization, 08918 Badalona, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4458-9833","authenticated-orcid":false,"given":"Pedro","family":"Valdivielso","sequence":"additional","affiliation":[{"name":"Unidad de L\u00edpidos, Hospital Universitario Virgen de la Victoria, Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga (IBIMA), Universidad de M\u00e1laga, 29010 M\u00e1laga, Spain"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6789-1563","authenticated-orcid":false,"given":"Raquel","family":"Yahyaoui","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Laboratory of Inherited Metabolic Disorders, Hospital Regional Universitario de M\u00e1laga, Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga IBIMA-Plataforma BIONAND, 29590 M\u00e1laga, Spain"}]},{"given":"Jes\u00fas","family":"Quintero","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Liver Transplant Unit, Department of Pediatrics, ERN Rare Liver ERN TransplantChild, Vall d\u2019Hebron Barcelona Hospital Campus, Universitat Aut\u00f2noma de Barcelona, 08193 Barcelona, Spain"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.atherosclerosis.2014.04.003","article-title":"Lysosomal acid lipase deficiency: An under-recognized cause of dyslipidaemia 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