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
Sign Up to like & getrecommendations! Published in 2021 at "Thyroid"
DOI: 10.1089/thy.2020.0696
Abstract: Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of… read more here.
Keywords: reverse triiodothyronine; triiodothyronine; mct8 deficiency; dbs samples ... See more keywords
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.657820
Abstract: Background: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transmembrane transporter protein. MCT8 deficiency induces severe X-linked psychomotor retardation. Previous reports have documented delayed myelination in the central white matter (WM) in these patients; however,… read more here.
Keywords: age; myelination; mct8 deficiency; transporter ... See more keywords