Čes-slov Pediat 2024, 79(4):209-212 | DOI: 10.55095/CSPediatrie2024/035
Lysosomal acid lipase deficiency
- Pediatrická klinika, 2. lékařská fakulta, Univerzita Karlova a FN Motol, Praha
Lysosomal acid lipase deficiency (LAL-D) is a genetically determined progressive disease with significant morbidity and mortality in children and adults. The main clinical features include a
combination of hepatic dysfunction and dyslipidemia as a consequence of cholesterol ester and triglyceride accumulation throughout the body, predominantly in the liver, spleen, gastrointestinal tract and vessel walls. It has an accurate diagnosis available by biochemical demonstration of acid lysosomal lipase (LAL) activity and in recent years has been well addressed by causal therapy based on
recombinant enzyme replacement therapy.
Keywords: acid lipase, dyslipidemia, steatosis
Accepted: May 31, 2024; Published: August 1, 2024 Show citation
References
- Sloan RH, Fredrickson DS. Enzyme deficiency in cholesterol ester storage disease. J Clin Invest 1972; 51: 1923-1926.
Go to original source... 
Go to PubMed... - Wolman M, Sterk VV, Gatt S, et al. Primary family xanthomatosis with involvement and calcification of the adrenals: report of two more cases in siblings of a previously described infant. Pediatrics 1961; 28: 742-757. Go to original source...
- Abramov A, Schorr S, Wolman M. Generalized xanthomatosis with calcified adrenals. Am J Dis Child 1956; 91: 282-286. Go to original source... Go to PubMed...
- Jones SA, Valayannopoulos V, Schneider E, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genetics Med 2016; 5: 452-458. Go to original source... Go to PubMed...
- Elleder M, Poupětová H, Ledvinová J, et al. Lysosomal acid lipase deficiency. Overview of Czech patiens. Čas Lék čes 1999; 138: 719-724.
- Fredrickson DS. Newly recognised disorders of cholestol metabolism. Ann Intern Med 1963; 58: 718. Go to original source...
- Assmann G, Seedorf U. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The metabolic and molecular bases of inherited disease. New York: McGraw Hill Inc 2001: 3551-3572.
- Mazurová S, Poupětová H, Hůlková H, et al. Nemoc ze střádání esterů cholesterolu (CESD): klinická, laboratorní a histologická charakteristika šesti pacientů. Čes-slov Pediat 2014; 69: 148-160.
- Longhi R, Vergani C, Valsasina R, et al. Cholesteryl ester storage disease: risk factors for atherosclerosis in a 15-year-old boy. J Inherit Metab Dis 1988; 11(Suppl 2): 143-5. Go to original source... Go to PubMed...
- Elleder M, Chlumská A, Hyánek J, et al. Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. J Hepatol 2000; 32: 528-34. Go to original source... Go to PubMed...
- Hůlková H, Elleder M. Distinctive histopatological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens. Histopatology 2012; 60: 1107-1113. Go to original source... Go to PubMed...
- Anderson RA, Byrum RS, Coates PM, et al. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Nat Acad Sci 1994; 91: 2718-2722. Go to original source... Go to PubMed...
- Reiner Ž, Guardamagna O, Nair D, et al. Lysosomal acid lipase deficienty - an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 2014; 235: 21-30. Go to original source... Go to PubMed...
- Bernstein DL, Hůlková H, Bialer MG, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013; 58: 1230-1243. Go to original source... Go to PubMed...
- Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-54. Go to original source... Go to PubMed...
- Poupětová H, Ledvinová J, Berná L, et al. The birth prevalence of lysosomal storage disorders in the Czech republic: Comparison with with data in different populations. J Inherit Metab Dis 2010; 33: 387-396. Go to original source... Go to PubMed...
- Scott SA, Liu B, Nazarenko I, et al. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology 2013; 58: 958-965. Go to original source... Go to PubMed...
- Carter A, Brackley SM, Gao J, et al. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condicion that mimics NAFLD. J Hepatol 2019; 70: 142-150. Go to original source... Go to PubMed...
- Valayannopoulos V, Malinova V, Honzík T, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol 2014; 61: 1135-42. Go to original source... Go to PubMed...
- Shirley M. Sebelipase alfa: first global approval. Drugs 2015; 75: 1935-40. Go to original source... Go to PubMed...
- Pastores GM, Hughes DA. Lysosomal acid lipase deficiency: Therapeutic options. Drug Design Development Ther 2020; 14: 591-601. Go to original source... Go to PubMed...
- Arterburn JN, Lee WM, Wood RP, et al. Orthotopic liver transplantation for cholesteryl ester storage disease. J Clin Gastroenterol 1991; 13: 482-5. Go to original source... Go to PubMed...
- Kale AS, Ferry GD, Hawkins EP. End-stage renal disease in a patient with cholesteryl ester storage disease following successful liver transplantation and cyclosporine immunosuppression. J Pediatr Gastroenterol Nutr 1995; 20: 95-7. Go to original source...
This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, distribution, and reproduction in any medium, provided the original publication is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms.