What is Lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disorder characterized by the absence or deficiency of an enzyme called lysosomal acid lipase (LAL). This enzyme plays a crucial role in breaking down fats within the lysosomes, which are small compartments within cells responsible for digestion and waste removal.

Without enough functional LAL, fatty substances accumulate in various tissues and organs, leading to a range of symptoms. These may include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), elevated liver enzymes, dyslipidemia (abnormal lipid levels), and growth failure in infants. In severe cases, LAL-D can cause liver fibrosis, cirrhosis, and liver failure.

LAL-D can manifest in different forms, including early-onset (infantile) and late-onset (childhood/adult) forms. The severity and progression of the disease can vary widely among individuals.

Early diagnosis and treatment are crucial to manage LAL-D effectively. Enzyme replacement therapy (ERT) and lipid-lowering medications may be used to address the underlying enzyme deficiency and manage symptoms. Genetic counseling is recommended for affected individuals and their families.