A relative deficiency of lysosomal acid lypase activity characterizes non-alcoholic fatty liver disease

Francesco Tovoli, Lucia Napoli, Giulia Negrini, Sergio D’Addato, Giulia Tozzi, Jessica D’Amico, Fabio Piscaglia, Luigi Bolondi

Research output: Contribution to journalArticlepeer-review


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)-however, 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.

Original languageEnglish
Article number1134
JournalInternational Journal of Molecular Sciences
Issue number6
Publication statusPublished - Jun 1 2017


  • Liver cirrhosis
  • Lysosomal acid lipase
  • Non-alcoholic fatty liver disease
  • Steatohepatitis
  • Steatosis

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Computer Science Applications
  • Spectroscopy
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


Dive into the research topics of 'A relative deficiency of lysosomal acid lypase activity characterizes non-alcoholic fatty liver disease'. Together they form a unique fingerprint.

Cite this