Catalog

Phosphoenolpyruvate carboxykinase 2 deficiency

No MMS code

Link to WHO Definition

Phosphoenolpyruvate carboxykinase 2 deficiency – http://id.who.int/icd/entity/1882770987

This is an enzyme in the lyase family used in the metabolic pathway of gluconeogenesis. It converts oxaloacetate into phosphoenolpyruvate and carbon dioxide.