Myeloperoxidase deficiency

Myeloperoxidase deficiency (pronounced as my-uh-loh-pair-OK-si-days deficiency) is a rare genetic disorder that affects the immune system.

Etymology

The term "Myeloperoxidase deficiency" is derived from three Greek words: "myelos" meaning marrow, "peroxis" meaning to sharpen or stimulate, and "ase" a suffix used in the names of enzymes. The term "deficiency" comes from the Latin word "deficientia" meaning lack or shortage.

Definition

Myeloperoxidase deficiency is a disorder characterized by a decrease in the level of the enzyme myeloperoxidase in certain white blood cells. This enzyme plays a crucial role in the immune system's response to infection.

Symptoms

The symptoms of myeloperoxidase deficiency can vary greatly from person to person. Some individuals with this condition may not show any symptoms, while others may experience frequent and severe infections.

Causes

Myeloperoxidase deficiency is caused by mutations in the MPO gene. This gene provides instructions for making the enzyme myeloperoxidase, which is involved in the immune system's response to infection.

Diagnosis

Diagnosis of myeloperoxidase deficiency is typically made through a blood test that measures the level of myeloperoxidase in white blood cells.

Treatment

There is currently no cure for myeloperoxidase deficiency. Treatment is typically focused on managing symptoms and preventing infections.

Related Terms

• Enzyme
• Immune system
• White blood cells
• MPO gene
• Mutation

External links

• Medical encyclopedia article on Myeloperoxidase deficiency
• Wikipedia's article - Myeloperoxidase deficiency

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