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| Myeloperoxidase deficiency Classification and external resources |
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| Hypochlorous acid is normally produced by myeloperoxidase | |
| OMIM | 254600 |
| DiseasesDB | 8662 |
| eMedicine | ped/1530 |
Myeloperoxidase deficiency is a common genetic disorder featuring deficiency, either in quantity or function, of myeloperoxidase, an enzyme found in certain phagocytic immune cells, especially polymorphonuclear leukocytes.
It can appear similar to chronic granulomatous disease on some screening tests.[1]
Presentation
Although MPO deficiency classically presents with immune deficiency (especially candida albicans infections), the majority of individuals with MPO deficiency show no signs of immunodeficiency.
The lack of severe symptoms suggest that role of myeloperoxidase in the immune response must be redundant to other mechanisms of intracellular killing of phagocytosed bacteria.[2]
References
- ^ Mauch L, Lun A, O'Gorman MR, et al (May 2007). "Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD". Clin. Chem. 53 (5): 890–6. doi:. PMID 17384005.
- ^ Levinson, Warren. "Medical Microbiology & Immunology, 8th ed." Lange:2004.
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