Lysosomal acid lipase deficiency
What is lysosomal acid lipase deficiency?
Lysosomal acid lipase (LAL) deficiency is a rare genetic disorder. People with this disorder are missing an enzyme called lysosomal acid lipase. This enzyme has a job. It is supposed to break down certain fats in the body. Because people don’t have enough of this enzyme, certain fats called triglycerides and cholesteryl esters build up in various organs of the body. The liver and spleen are often affected. This abnormal buildup of fats damages the affected organs. Doctors refer to LAL deficiency as a spectrum of disease – this means that the symptoms and the severity of the disorder can be very different among people. Sometimes, the disorder causes very severe problems right after birth. It can rapidly get worse in these infants and quickly cause life-threatening problems or death within the first year of life. Other times, the disorder can be much less severe or even cause very few, mild symptoms. Symptoms may not start until later in childhood or adulthood. Some people may have mild symptoms that can go undetected into adulthood. LAL deficiency is caused by changes in a the LIPA gene.
Every person with LAL deficiency is unique. Much of the information on this disorder may not apply to a specific individual because their individual situation is different. The severe end of this spectrum may be called Wolman disease. The milder end of this spectrum may be called cholesteryl ester storage disease. It is best to talk with your physician and medical team about you or your child’s specific situation and prognosis.
In order to find support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments, it can be useful to reach out to the LAL deficiency support group: LAL Solace.
There is also a very good webpage about lysosomal acid lipase deficiency for doctors that can be found at GeneReviews- lysosomal acid lipase deficiency.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/lysosomal-acid-lipase-deficiency/overview/43257 • DATE UPDATED: 2016-07-20
Hoffman EP, Giovanni MA, Murray MF. Lysosomal Acid Lipase Deficiency. GeneReviews website. Accessed July 6, 2016. http://www.ncbi.nlm.nih.gov/books/NBK305870/
Marin-Valencia I, Pascual JM. Wolman disease. In: Rosenberg RN, Pascual JM, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th ed. London, UK: Elsevier;2015.