Lysosomal acid lipase deficiency (LAL-D)

LAL-D is a genetic and progressive ultra-rare metabolic disease associated with multi-organ damage in infant, pediatric and adult patients and premature death in infants.1,2 LAL-D is caused by genetic mutations, which result in a decrease or loss in activity of the LAL enzyme. This damage leads to a continuous accumulation of cholesteryl esters and triglycerides in the liver, blood vessel walls and other vital tissues, damaging multiple organs, including the liver, spleen and intestine.3

LAL-D affects people of all ages with clinical manifestations from infancy through adulthood.3 Infants with LAL-D can face rapid disease progression over a period of weeks that is typically fatal within a matter of months. The median age of death in these patients is 3.7 months.4
  • Multi-organ damage
  • Cardiovascular disease manifestations including dyslipidemia, accelerated atherosclerosis, coronary artery disease
  • Liver damage including fibrosis, cirrhosis, and failure
  • Failure to thrive and premature death
Helderman RC, et al. Loss of function of lysosomal acid lipase (LAL) profoundly impacts osteoblastogenesis and increases fracture risk in humans. J. Bone. 2021;148:115946. Borges M, et al. Lysosomal acid lipase (LAL) deficiency: enzyme assay on dried blood spot as diagnostic tool in a patient misdiagnosed as niemann-pick type c disease. Residencia Pediatrica. 

2023;13(3):1 5. Bernstein DL, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol.2013;58(6):1230 1243. Jones SA, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016;18(5):452 458.