LAL deficiency, also known as Wolman disease, is a lethal genetic lipid storage disease that is caused by the lack of lysosomal acid lipase (Lipase A) enzyme. (Lipase A) is important in breaking down (catabolism) low-density lipoproteins (triglycerides and cholesterol esters). Absence of active enzyme leads to accumulation of large amounts of these lipids in cells. Therefore, the normal metabolic functions of the cells are impaired causing severe neurological and physical symptoms which end with early death.
Infants with LAL deficiency are normal and active at birth, but rapidly develop progressive mental deterioration, hepatosplenomegaly, distended abdomen, gastrointestinal problems (steatorrhea), jaundice, anemia, vomiting and calcification of the adrenal glands. In addition, hyperlipidemia type IIb is common in LAL deficiency. The milder form of the disease is cholesterol ester storage disease (CESD). Patients with CESD may not show symptoms until adulthood, whereas severe Wolman disease is usually fatal by age one. Overall, the progression of the disease is related to how much Lipase A enzyme is active. The early onset form of LAL deficiency has a reported incidence of 2 births per million in a general population.
LAL deficiency goes by several different names in the medical literature. This is mainly represents a lack of awareness and experience with the disease more than variance in its molecular causes. In addition, certain genetic conditions may also be mistaken for early onset forms of the disease. These include: Hirschprung's disease, Niemann-Pick C, gastroenteritis, pyloric stenosis, histiocytosis, lymphoproliferative disease, and childhood cirrhosis.
There is no specific treatment for LAL deficiency. However, patients with anemia may require blood transfusions. Moreover, the enlarged spleen must be removed to improve cardiopulmonary function. Lipid free diet does not prevent lipid building up in the cells.