Lysosomal Acid Lipase (LAL) Deficiency Treatment is currentlylimited to control of cholesterol levels and to prevent prematureatherosclerosis. In 2015, the United States Food and DrugAdministration (USFDA) approved Alexion Pharmaceutical’s Kanuma, aninnovative enzyme replacement therapy (ERT), the only availabletreatment for the lysosomal acid lipase (LAL) deficiency in theUnited States, Japan, and Europe Union. Kanuma (sebelipase alfa) isfirst approved therapy that helps treat the underlying cause of thedisease. Kanuma is a hydrolytic lysosomal cholesteryl ester andtriacylglycerol-specific enzyme indicated for LysosomalAcid Lipase (LAL) Deficiency Treatment.
Kanumais indicated for the treatment of people with a diagnosis of LAL-Dand is administered as an infusion by a healthcare professional. LALdeficiency is an autosomal recessive inborn error of metabolism thatresults in the body not producing enough active lysosomal acid lipase(LAL) enzyme. It is a rare genetic disease that cannot be cured byany medicine or drug. A deficiency of lysosomal acid results inlaryngeal atresia or abnormal vocal cord development or laryngealparalysis. The symptoms of LAL deficiency are muscular weakness,drooling, depression, and facial warts. This disease is inherited inan autosomal dominant form and is very rare in males.
Inits milder form, lysosomal acid lipase deficiency can affect manyparts of your body. Late-onset form of LAL deficiency, lipids buildupthroughout the body, especially in the liver, often within the firstfew weeks of life. This buildup of lipids results in a variety ofhealth issues, including: an enlarged liver kidneys, poor weightgain, darkening of the skin and whites of the eye (ultraviolet lightsyndrome), jaundice, enlarged spleen and liver, heart palpitations,skin rash, fever, fatigue, and liver damage (which are oftenreversible with medication).
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