{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T03:31:08Z","timestamp":1779939068771,"version":"3.53.1"},"reference-count":20,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T00:00:00Z","timestamp":1495670400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Oriented Finalized Research funds (R.F.O) of the Ministry of University, Italy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Lysosomal acid lipase (LAL) is a key enzyme in lipid metabolism. Initial reports have suggested a role for a relative acquired LAL deficiency in non-alcoholic fatty liver disease (NAFLD)\u2014however, it is still unclear whether this mechanism is specific for NAFLD. We aimed to determine LAL activity in a cohort of NAFLD subjects and in a control group of hepatitis C virus (HCV)-infected patients, investigating the role of liver cirrhosis. A total of 81 patients with a diagnosis of NAFLD, and 78 matched controls with HCV-related liver disease were enrolled. For each patient, LAL activity was determined on peripheral dried blood spots (DBS) and correlated with clinical and laboratory data. A subgroup analysis among cirrhotic patients was also performed. LAL activity is significantly reduced in NAFLD, compared to that in HCV patients. This finding is particularly evident in the pre-cirrhotic stage of disease. LAL activity is also correlated with platelet and white blood cell count, suggesting an analytic interference of portal-hypertension-induced pancytopenia on DBS-determined LAL activity. NAFLD is characterized by a specific deficit in LAL activity, suggesting a pathogenetic role of LAL. We propose that future studies on this topic should rely on tissue specific analyses, as peripheral blood tests are also influenced by confounding factors.<\/jats:p>","DOI":"10.3390\/ijms18061134","type":"journal-article","created":{"date-parts":[[2017,5,30]],"date-time":"2017-05-30T04:35:42Z","timestamp":1496118942000},"page":"1134","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease"],"prefix":"10.3390","volume":"18","author":[{"given":"Francesco","family":"Tovoli","sequence":"first","affiliation":[{"name":"Unit of Internal Medicine, Departmentt of Medical and Surgical Sciences, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Napoli","sequence":"additional","affiliation":[{"name":"Unit of Internal Medicine, Departmentt of Medical and Surgical Sciences, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Negrini","sequence":"additional","affiliation":[{"name":"Unit of Internal Medicine, Departmentt of Medical and Surgical Sciences, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6631-4342","authenticated-orcid":false,"given":"Sergio","family":"D\u2019Addato","sequence":"additional","affiliation":[{"name":"Unit of Internal Medicine, Departmentt of Medical and Surgical Sciences, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Tozzi","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscolar and Neurodegenerative Diseases, Children\u2019s Hospital and Research Institute \u201cBambino Ges\u00f9\u201d, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"D\u2019Amico","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscolar and Neurodegenerative Diseases, Children\u2019s Hospital and Research Institute \u201cBambino Ges\u00f9\u201d, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8264-1845","authenticated-orcid":false,"given":"Fabio","family":"Piscaglia","sequence":"additional","affiliation":[{"name":"Unit of Internal Medicine, Departmentt of Medical and Surgical Sciences, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Bolondi","sequence":"additional","affiliation":[{"name":"Unit of Internal Medicine, Departmentt of Medical and Surgical Sciences, University of Bologna, 40136 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2017,5,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.ymgme.2011.12.008","article-title":"Lysosomal lipase deficiency: Molecular characterization of eleven patients with wolman or cholesteryl ester storage disease","volume":"105","author":"Fasano","year":"2012","journal-title":"Mol. 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