Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S.
Iwayama H, et al.
Thyroid. 2021 Sep;31(9):1316-1321. doi: 10.1089/thy.2020.0696. Epub 2021 Jul 2.
Thyroid. 2021.
PMID: 34049438
Free PMC article.
The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as the inability of standard biomarkers of neonatal screening to provide early detection. ...Conclusions: rT3 and T3/rT3 ratio in DBS samples obtained from neon …
The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as the inability of …