Features include always present findings: Diminished neutrophil myeloperoxidase activity. 5 total HPO annotations.

MPO encodes myeloperoxidase (745 aa). Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. Highest expression in Whole Blood (21.3 TPM) and Spleen (13.2 TPM).

Myeloperoxidase deficiency is associated with mutations in the MPO gene on chromosome 17.

The MPO protein participates in Myeloperoxidase (MPO) produces hypochlorous acid (HOCl), Myeloperoxidase (MPO) catalyzes oxidation of nitrite to nitrogen dioxide, and Membrane-bound myeloperoxidase (MPO) produces hypochlorous acid (HOCl) pathways.

MPO is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.5.

Genetic testing for MPO is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myeloperoxidase deficiency has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for myeloperoxidase deficiency.

12 publications have been identified in PubMed for myeloperoxidase deficiency. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).