Myeloperoxidase deficiency

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Myeloperoxidase deficiency
3D model of hypochlorous acid
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Increased susceptibility to fungal infections, delayed microbial killing
Complications Infections, particularly Candida
Onset Congenital or acquired
Duration Lifelong
Types N/A
Causes Genetic mutations in the MPO gene
Risks Increased risk of infections
Diagnosis Blood test for myeloperoxidase activity
Differential diagnosis Chronic granulomatous disease, Leukocyte adhesion deficiency
Prevention N/A
Treatment Antifungal medications, antibiotics
Medication N/A
Prognosis Generally good with treatment
Frequency Rare
Deaths N/A


Myeloperoxidase function diagram

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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Contributors: Prab R. Tumpati, MD