Overview
Wolman disease, also known as lysosomal acid lipase deficiency (LAL deficiency) or Wolman syndrome, is a rare inherited condition where the body cannot break down certain fats properly. It is caused by a missing or non-working enzyme called lysosomal acid lipase (LAL). Without this enzyme, fatty substances called cholesterol esters and triglycerides build up inside cells throughout the body, especially in the liver, spleen, adrenal glands, and intestines. This buildup causes serious damage to these organs very quickly. Babies with Wolman disease usually appear healthy at birth but develop symptoms within the first few weeks of life. Common signs include severe vomiting, diarrhea, a swollen belly, poor weight gain or weight loss, and a very enlarged liver and spleen. The adrenal glands, which sit on top of the kidneys, often develop calcium deposits that can be seen on imaging. Babies may also develop anemia and malnutrition because the intestines cannot absorb nutrients properly. Without treatment, Wolman disease is life-threatening in infancy, usually within the first year of life. However, there is now an FDA-approved enzyme replacement therapy called sebelipase alfa (brand name Kanuma) that can significantly improve outcomes. Hematopoietic stem cell transplantation (bone marrow transplant) has also been used in some cases. Early diagnosis and treatment are critical to giving affected children the best possible chance.
Key symptoms:
Severe vomiting and diarrheaFailure to gain weight or significant weight lossVery enlarged liver and spleen (swollen belly)Calcium deposits in the adrenal glandsAnemia (low red blood cell count)Malnutrition and poor feedingPale or greasy stoolsExtreme tiredness and weaknessYellowing of the skin or eyes (jaundice)Liver failureSwelling in the abdomenLow muscle tone (floppiness)
Clinical phenotype terms (17)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Wolman disease.
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Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 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
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Wolman disease.
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Questions for your doctor
Bring these to your next appointment
- Q1.Is my child a candidate for enzyme replacement therapy with Kanuma, and how soon should we start?,Should we also consider stem cell transplantation, and what are the risks and benefits?,Does my child need treatment for adrenal insufficiency, and what should I do in an emergency?,How often will my child need monitoring, and what tests will be done to track the disease?,Are there any clinical trials or new treatments we should consider?,Should other family members be tested to see if they are carriers?,What nutritional support does my child need, and should we see a dietitian?
Common questions about Wolman disease
What is Wolman disease?
Wolman disease, also known as lysosomal acid lipase deficiency (LAL deficiency) or Wolman syndrome, is a rare inherited condition where the body cannot break down certain fats properly. It is caused by a missing or non-working enzyme called lysosomal acid lipase (LAL). Without this enzyme, fatty substances called cholesterol esters and triglycerides build up inside cells throughout the body, especially in the liver, spleen, adrenal glands, and intestines. This buildup causes serious damage to these organs very quickly. Babies with Wolman disease usually appear healthy at birth but develop sym
How is Wolman disease inherited?
Wolman disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Wolman disease typically begin?
Typical onset of Wolman disease is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Wolman disease?
25 specialists and care centers treating Wolman disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.