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Lysosomal Acid Lipase Activity Deficiency in Children with Liver Disease- What Else Could It Be?

Author

Listed:
  • Giusy Ranucci

    (Department of Translational Medical Science, Section of Pediatric, University of Naples Federico II, Italy; Division of Metabolism, Bambino Gesù Research Children's Hospital, IRCCS, Rome, Italy)

  • Giada Zollo

    (Department of Translational Medical Science, Section of Pediatric, University of Naples Federico II, Italy)

  • Giulia Tozzi

    (Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy)

  • Valerio Nobili

    (Hepatology, Gastroenterology and Nutrition, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; Department of Pediatric, University la Sapienza Rome)

  • Maria Immacolata Spagnuolo

    (Department of Translational Medical Science, Section of Pediatric, University of Naples Federico II, Italy)

  • Raffaele Iorio

    (Department of Translational Medical Science, Section of Pediatric, University of Naples Federico II, Italy)

Abstract

While a total Lysosomal Acid Lipase activity deficiency determines Wolman Disease, in partial deficiency there’s a residual enzyme activity. Onset and clinical features of partial LAL-d are very variable. Secondary LAL-d has been found in patients with non alcoholic fatty liver disease obesity related. The aim of this study was to evaluate Lysosomal Acid Lipase activity (LAL-A) deficiency determined by dried blood spotting (DBS) in pediatric patients with known and unknown liver disease in order to clarify the role of this test in pediatric clinical practice. Relationship between LAL-A and liver enzymes, dyslipidemia and other parameters of metabolic syndrome was investigated.

Suggested Citation

  • Giusy Ranucci & Giada Zollo & Giulia Tozzi & Valerio Nobili & Maria Immacolata Spagnuolo & Raffaele Iorio, 2018. "Lysosomal Acid Lipase Activity Deficiency in Children with Liver Disease- What Else Could It Be?," Biomedical Journal of Scientific & Technical Research, Biomedical Research Network+, LLC, vol. 6(2), pages 001-007, July.
    • Handle: RePEc:abf:journl:v:6:y:2018:i:2:p:001-007
    DOI: 10.26717/BJSTR.2018.06.001320
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    JEL classification:

    • R00 - Urban, Rural, Regional, Real Estate, and Transportation Economics - - General - - - General
    • Z0 - Other Special Topics - - General

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