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Lysosomal Acid Lipase Deficiency (LAL-D) is a rare, genetic, progressive condition in which infants, children, and adults have an uncontrolled buildup of fatty material (cholesteryl esters and triglycerides) in their cells. This buildup can cause ongoing damage to their organs.
LAL-D is diagnosed in people of all ages, from infancy to adulthood. When seen in infants, LAL-D is considered a medical emergency that requires immediate treatment and can worsen very quickly. When seen in children and adults, LAL-D is progressive and, if left untreated, can lead to serious health problems that can occur at any time without warning.
Support yourself and those you care about most. If you have received a diagnosis, you can help those you love by making sure the rest of your family gets screened for LAL-D with a simple blood test. Because LAL-D is an inherited disease, there’s a chance that other members of your family could have it too. But it doesn't stop there, get involved in the rare disease community to get support throughout your care and management of LAL-D.