Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.
World J Hepatol. May 27, 2026; 18(5): 118469
Published online May 27, 2026. doi: 10.4254/wjh.v18.i5.118469
Published online May 27, 2026. doi: 10.4254/wjh.v18.i5.118469
Ten-year enzyme replacement therapy in early childhood-onset lysosomal acid lipase deficiency: A case report
Irem Kaplan, Deniz Kor, Fatma D Bulut, Neslihan Önenli Mungan, Department of Pediatric Metabolism and Nutrition, Cukurova University Faculty of Medicine, Adana 01330, Türkiye
Gokhan Tumgor, Department of Pediatric Gastroenterology, Cukurova University School of Medicine, Adana 01330, Türkiye
Derya Alabaz, Department of Pediatric Infectious Diseases, Cukurova University Faculty of Medicine, Adana 01330, Türkiye
Author contributions: Kaplan I, Kor D, Bulut FD, Tumgor G, Alabaz D, and Önenli Mungan N contributed to the acquisition and interpretation of the data, contributed to the drafting of the manuscript, provided review during revisions, and approved the final manuscript for submission.
Informed consent statement: Written informed consent for participation and publication was obtained from the parents and/or legally authorized guardians of the patient.
Conflict-of-interest statement: All the authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Irem Kaplan, MD, Department of Pediatric Metabolism and Nutrition, Cukurova University Faculty of Medicine, Balcalı Campus, Adana 01330, Türkiye.
Received: January 9, 2026
Revised: January 28, 2026
Accepted: February 26, 2026
Published online: May 27, 2026
Processing time: 143 Days and 20.4 Hours
Revised: January 28, 2026
Accepted: February 26, 2026
Published online: May 27, 2026
Processing time: 143 Days and 20.4 Hours
Core Tip
Core Tip: Early diagnosis of lysosomal acid lipase deficiency (LAL-D) is challenging owing to its nonspecific clinical presentation. We report a rare case diagnosed before the age of 4 years, with long-term follow-up after early initiation of enzyme replacement therapy. Our patient showed marked improvements in growth, liver function, and histology over 10 years, with no treatment-related adverse events. This case highlights the importance of early recognition and timely treatment of LAL-D to optimize long-term outcomes in affected children.