Overview
Lysosomal acid lipase deficiency (LAL deficiency), also known as cholesteryl ester storage disease (CESD) in its later-onset form and Wolman disease in its severe infantile form, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene. This gene encodes the enzyme lysosomal acid lipase, which is responsible for breaking down cholesteryl esters and triglycerides within lysosomes. When this enzyme is deficient or absent, these lipids accumulate in various organs, particularly the liver, spleen, and vascular system, leading to progressive organ damage. The clinical spectrum of LAL deficiency is broad. Wolman disease, the most severe form, presents in infancy with failure to thrive, vomiting, diarrhea, hepatosplenomegaly, adrenal calcification, and liver failure, often leading to death within the first year of life if untreated. The later-onset form, CESD, typically presents in childhood or adulthood with hepatomegaly, elevated liver enzymes, dyslipidemia (elevated LDL cholesterol and low HDL cholesterol), hepatic steatosis, and progressive liver fibrosis that can advance to cirrhosis and liver failure. Accelerated atherosclerosis and cardiovascular disease are also significant complications due to the abnormal lipid profile. Diagnosis is confirmed through measurement of LAL enzyme activity in dried blood spots or leukocytes and by molecular genetic testing of the LIPA gene. Treatment options include sebelipase alfa (Kanuma), an enzyme replacement therapy approved for LAL deficiency, which has been shown to improve liver function, lipid profiles, and survival. Supportive care including lipid-lowering agents and nutritional management may also be employed. Hematopoietic stem cell transplantation has been attempted in severe infantile cases with variable outcomes. Early diagnosis and treatment are critical to preventing irreversible organ damage.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsAlexion Pharmaceuticals, Inc. — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableKANUMA
KANUMA is indicated for the treatment of patients with a diagnosis of Lysosomal Acid Lipase (LAL) deficiency
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersResearch Site
📍 Los Angeles, California
👤 AstraZeneca Clinical Study Information Center
Clinical Trial Site
📍 Phoenix, Arizona
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Lysosomal acid lipase deficiency.
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Common questions about Lysosomal acid lipase deficiency
What is Lysosomal acid lipase deficiency?
Lysosomal acid lipase deficiency (LAL deficiency), also known as cholesteryl ester storage disease (CESD) in its later-onset form and Wolman disease in its severe infantile form, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene. This gene encodes the enzyme lysosomal acid lipase, which is responsible for breaking down cholesteryl esters and triglycerides within lysosomes. When this enzyme is deficient or absent, these lipids accumulate in various organs, particularly the liver, spleen, and vascular system, leading to progressive organ damage. The c
How is Lysosomal acid lipase deficiency inherited?
Lysosomal acid lipase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Lysosomal acid lipase deficiency?
Yes — 2 recruiting clinical trials are currently listed for Lysosomal acid lipase deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Lysosomal acid lipase deficiency?
25 specialists and care centers treating Lysosomal acid lipase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Lysosomal acid lipase deficiency?
1 patient support program are currently tracked on UniteRare for Lysosomal acid lipase deficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.