proprotein convertase 1 deficiency
proprotein convertase 1 deficiency
An extremely rare autosomal recessive condition (OMIM:600955) characterised by obesity, hypogonadism, hypoadrenalism, reactive hypoglycaemia and marked small intestinal absorptive dysfunction due to impaired processing of prohormones.Molecular pathology
Defects in PCSK1, which encodes a convertase involved in processing prohormones and other protein precursors, cause proprotein convertase 1 deficiency.