Monocarboxylate transporter 8 deficiency
WANG Huang-man
TENG Xiao-chun
Abstract：Thyroid hormones enter target cells through transmembrane transporters to exert biological effects.The monocarboxylate transporter 8(MCT8)encoded by the SLC16A2 gene is the main transporter of thyroid hormones and their derivatives.MCT8 deficiency caused by SLC16A2 gene mutations is an X-chromosome linked disease,and male patients in the family exhibit delayed neurological development and severe intellectual disabilities.The typical laboratory characteristics are a significant increase in serum T3 levels,a normal low or significant decrease in T4 levels,and a decrease in rT3 levels.The combination therapy of propylthiouracil,L-T4,and thyroid hormone analog therapy are the main treatment options.
Keywords：SLC16A2 genethyroid hormone transportermonocarboxylate transporter 8Allan-Herndon-Dudley syndrome
Publication Date：2025-02-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 117-120 )