Lysosomal Acid Lipase (LAL) Deficiency Treatment
Lysosomal Acid Lipase (LAL) Deficiency Treatment is currently limited to control of cholesterol levels and to prevent premature atherosclerosis. In 2015, the United States Food and Drug Administration (USFDA) approved Alexion Pharmaceutical’s Kanuma, an innovative enzyme replacement therapy (ERT), the only available treatment for the lysosomal acid lipase (LAL) deficiency in the United States, Japan, and Europe Union. Kanuma (sebelipase alfa) is first approved therapy that helps treat the underlying cause of the disease. Kanuma is a hydrolytic lysosomal cholesteryl ester and triacylglycerol-specific enzyme indicated for Lysosomal Acid Lipase (LAL) Deficiency Treatment.
Kanuma is indicated for the treatment of people with a diagnosis of LAL-D and is administered as an infusion by a healthcare professional. LAL deficiency is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. It is a rare genetic disease that cannot be cured by any medicine or drug. A deficiency of lysosomal acid results in laryngeal atresia or abnormal vocal cord development or laryngeal paralysis. The symptoms of LAL deficiency are muscular weakness, drooling, depression, and facial warts. This disease is inherited in an autosomal dominant form and is very rare in males.
In its milder form, lysosomal acid lipase deficiency can affect many parts of your body. Late-onset form of LAL deficiency, lipids buildup throughout the body, especially in the liver, often within the first few weeks of life. This buildup of lipids results in a variety of health issues, including: an enlarged liver kidneys, poor weight gain, darkening of the skin and whites of the eye (ultraviolet light syndrome), jaundice, enlarged spleen and liver, heart palpitations, skin rash, fever, fatigue, and liver damage (which are often reversible with medication).
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