thyroxine-binding globulin deficiency (TBG deficiency)

Pathology

• spectrum of deficiencies, characterized by either reduced or increased TBG levels in serum

Genetics

• associated with defects in SERPINA7 (TBG)

Clinical manifestations

• affected individuals are euthyroid

Laboratory

• serum thyroxine-binding globulin may be decreased, increased or normal

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/314200