platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency)

Epidemiology

• a trait which is present in 27% of Japanese

Genetics

• associated with defects in PLA2G7

Clinical manifestations

• could have a significant physiologic effect in the presence of inflammatory responses

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/601690