WHAT IS LAL-D?

Lysosomal Acid Lipase Deficiency (LAL-D) is a rare, inherited, and progressive genetic disorder caused by mutations in the LIPA gene, which result in the absence or deficiency of the enzyme lysosomal acid lipase (LAL).
This enzyme is essential for metabolizing fats and cholesterol within cells. Without it, cholesterol esters and triglycerides accumulate in the liver, spleen, intestine, and blood vessels, progressively damaging the body.

CLINICAL FORMS:

Wolman Disease

(Severe, rapid-onset infantile form)
It appears within the first months of life with persistent diarrhea, abdominal distension (hepatosplenomegaly), vomiting, growth retardation, anemia, and calcifications in the adrenal glands. Without proper nutrition and treatment, it often has fatal consequences before the first year of life.

Cholesteryl Ester Storage Disease (CESD)

(Late infantile, juvenile, or adult forms)
This form generally progresses more slowly than Wolman disease, with variable severity depending on the patient. It presents with progressive liver involvement (fatty liver, fibrosis/cirrhosis, and risk of liver failure) and significant lipid abnormalities (elevated LDL, low HDL, and sometimes elevated triglycerides), increasing the risk of cardiovascular disease (heart attack or stroke) at an early age.

Both forms are manifestations of the same disorder, differing in severity according to the level of enzyme activity.

TREATMENT

Since 2015, a specific treatment has been available: enzyme replacement therapy (ERT), which replaces the missing enzyme. It can save lives in severe cases and improve outcomes in patients of all ages. It is administered intravenously every one or two weeks.

The earlier treatment is started, the better the results—hence the importance of early diagnosis and newborn screening.

In addition, medical follow-up includes monitoring liver function, lipid profile, and providing specialized nutritional support.

LAL-D Cookbook

Learn more about LAL-D on the LAL-D Your Way website, where you’ll find additional information about Lysosomal Acid Lipase Deficiency (LAL-D).
You can also access the LAL-D Cookbook, specially designed for people living with LAL-D and their families.

Managing LAL-D can seem overwhelming, but with proper nutrition, you can take an active step toward a healthier lifestyle.
The cookbook offers delicious and easy recipes, tailored to specific dietary needs and created by healthcare professionals.

Download it and discover new recipes!