Lysosomal acid lipase deficiency

Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency (LAL-D), pronounced as /laɪˈsɒsəməl ˈæsɪd ˈlaɪpəˌeɪs dɪˈfɪʃənsi/, is a rare inherited genetic disorder that affects the body's ability to produce an enzyme called lysosomal acid lipase (LAL). The term originates from the Greek words "lysis" meaning "loosening", "soma" meaning "body", "lipos" meaning "fat", and "ase" meaning "enzyme".

Causes

LAL-D is caused by mutations in the LIPA gene. This gene provides instructions for producing the enzyme lysosomal acid lipase, which is necessary for the breakdown of certain fats (lipids) in the body. When the LIPA gene is mutated, the body cannot produce enough functional LAL enzyme, leading to a buildup of these fats in the body's cells and tissues.

Symptoms

Symptoms of LAL-D can vary widely and may include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), jaundice (yellowing of the skin and eyes), anemia (low red blood cell count), and malnutrition.

Diagnosis

Diagnosis of LAL-D typically involves genetic testing to identify mutations in the LIPA gene. Other diagnostic tests may include blood tests, liver function tests, and imaging studies such as ultrasound or magnetic resonance imaging (MRI).

Treatment

Treatment for LAL-D is primarily focused on managing symptoms and preventing complications. This may include dietary modifications, medications to manage specific symptoms, and in some cases, enzyme replacement therapy (ERT) to replace the deficient LAL enzyme.

Prognosis

The prognosis for individuals with LAL-D can vary widely depending on the severity of symptoms and the individual's response to treatment. Early diagnosis and treatment can significantly improve the prognosis.

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Lysosomal acid lipase deficiency