ArticleJournal of pediatric gastroenterology and nutrition2015
Clinical Features of Lysosomal Acid Lipase Deficiency.
Article in Journal of pediatric gastroenterology and nutrition, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 113 citations in OpenAlex.
- Sebelipase alfa for lysosomal acid lipase deficiency: 5-year treatment experience from a phase 2 open-label extension study.Liver international : official journal of the International Association for the Study of the Liver · 2020Trial
- Lipolysis in Health and Disease: Pathways, Regulation, and Metabolic Consequences.Current diabetes reports · 2026Review
- Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group.Orphanet journal of rare diseases · 2025Review
- Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry.Liver international : official journal of the International Association for the Study of the Liver · 2025Observational
- Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.Nutrients · 2024Review
- Liver-directed AAV gene therapy normalizes disease symptoms and provides cross-correction in a model of lysosomal acid lipase deficiency.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.Digestive diseases and sciences · 2024Article
- Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.Journal of clinical medicine · 2024Review
- Identification of disease-associate variants of aggressive periodontitis using genome-wide association studies.The Japanese dental science review · 2023Review
- Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia.JACC. Case reports · 2023Article
- Natural history and management of liver dysfunction in lysosomal storage disorders.World journal of hepatology · 2022Review
- Therapeutic efficacy of rscAAVrh74.miniCMV.Molecular therapy. Methods & clinical development · 2022Article
- Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease.Frontiers in genetics · 2022Review
- Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents.Journal of nutrition and metabolism · 2022Review
- Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.Frontiers in genetics · 2022Article
- Article
- Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.Pharmacology research & perspectives · 2021Observational
- The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children.ACG case reports journal · 2021Article
- A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.Journal of pediatric gastroenterology and nutrition · 2020Article
- Inborn errors of metabolism in the differential diagnosis of fatty liver disease.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2020Review
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Authors and funding
18 authors at 14 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults.
methodsInvestigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset.
resultsA total of 49 patients were enrolled; 48 had confirmed LAL D. Mean age at first disease-related abnormality was 9.0 years (range 0-42); mean age at diagnosis was 15.2 years (range 1-46). Twenty-nine (60%) were male patients, and 27 (56%) were <20 years of age at the time of consent/assent. Serum transaminases were elevated in most patients with 458 of 499 (92%) of alanine aminotransferase values and 265 of 448 (59%) of aspartate aminotransferase values above the upper limit of normal. Most patients had elevated low-density lipoprotein (64% patients) and total cholesterol (63%) at baseline despite most being on lipid-lowering therapies, and 44% had high-density lipoprotein levels below the lower limit of normal. More than half of the patients with liver biopsies (n = 31, mean age 13 years) had documented evidence of steatosis (87%) and/or fibrosis (52%). Imaging assessments revealed that the median liver volume was ∼1.15 multiples of normal (MN) and median spleen volume was ∼2.2 MN. Six (13%) patients had undergone a liver transplant (ages 9-43.5 years).
conclusionThis study provides the largest longitudinal case review of patients with LAL D and confirms that LAL D is predominantly a pediatric disease causing early and progressive hepatic dysfunction associated with dyslipidemia that often leads to liver failure and transplantation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.