carboxypeptidase N deficiency

A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous

A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2.

Signs and symptoms

• Decreased circulating carboxypeptidase N activity
• Urticaria
• Angioedema
• Allergic rhinitis

Also known as: anaphylotoxin inactivator deficiency; deficiency of carboxypeptidase B