Myeloperoxidase deficiency

Myeloperoxidase deficiency is a genetic disorder that affects the immune system. It is characterized by a decrease in the number of myeloperoxidase (MPO) enzymes, which play a crucial role in the immune 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 at all, 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 myeloperoxidase enzyme, which is found in certain types of white blood cells called neutrophils.

Diagnosis

Diagnosis of myeloperoxidase deficiency is typically made through a blood test that measures the level of myeloperoxidase in the blood. Genetic testing may also be used to identify mutations in the MPO gene.

Treatment

There is currently no cure for myeloperoxidase deficiency. Treatment is typically focused on managing symptoms and preventing infections. This may include the use of antibiotics and other medications.

Prognosis

The prognosis for individuals with myeloperoxidase deficiency can vary greatly depending on the severity of the condition and the individual's overall health. However, with proper management, many individuals with this condition can lead normal, healthy lives.

See also

• Neutrophil
• MPO gene
• Genetic disorder

Myeloperoxidase deficiency Resources
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References

External links

• Myeloperoxidase deficiency at Genetics Home Reference
• MPO gene at National Center for Biotechnology Information