Lipoprotein lipase deficiency

Lipoprotein Lipase Deficiency

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Lipoprotein lipase molecule, the enzyme deficient in Lipoprotein lipase deficiency

Lipoprotein lipase deficiency is a rare genetic disorder characterized by a deficiency of the enzyme lipoprotein lipase (LPL). This enzyme plays a crucial role in the metabolism of lipids, specifically in the breakdown of triglycerides.

Overview

Lipoprotein lipase deficiency is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. The disorder is caused by mutations in the LPL gene, which provides instructions for producing lipoprotein lipase.

Symptoms

The deficiency of lipoprotein lipase leads to the accumulation of triglycerides in the blood, resulting in a condition known as hypertriglyceridemia. Symptoms of this disorder may include recurrent episodes of abdominal pain, pancreatitis, and eruptive xanthomas, which are yellowish deposits of fat under the skin.

Diagnosis

Diagnosis of lipoprotein lipase deficiency is typically made through a combination of clinical examination, patient history, and laboratory testing. Genetic testing can confirm the presence of mutations in the LPL gene.

Treatment

There is currently no cure for lipoprotein lipase deficiency. Treatment is focused on managing symptoms and preventing complications. This often involves dietary modifications to limit the intake of fats.

Epidemiology

Lipoprotein lipase deficiency is a rare disorder, with an estimated prevalence of 1 in 1,000,000 individuals. It affects both males and females equally.

See Also

• Lipid metabolism
• Genetic disorder
• Hypertriglyceridemia