Abnormal thyroid hormone metabolism
Definition:
Abnormal thyroid hormone metabolism (THMA) is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic to selenoprotein synthesis, these defects have a generalized effect on selenoproteins.
References:
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[1]. Alexandra M Dumitrescu, et al. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov;37(11):1247-52. [Content Brief]
[2]. Monica M França, et al. Human Type 1 Iodothyronine Deiodinase ( DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 Feb;31(2):202-207. [Content Brief]
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