Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.

ABSTRACT:

Context

Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot walk or talk, and all have elevated serum T(3) levels, causing peripheral tissue hypermetabolism and inability to maintain weight. Treatment with thyroid hormone is ineffective. In Mct8-deficient mice, the thyroid hormone analog, diiodothyropropionic acid (DITPA), does not require MCT8 to enter tissues and could be an effective alternative to thyroid hormone treatment in humans.

Objective

The objective of the study was to evaluate the effect and efficacy of DITPA in children with MCT8 deficiency.

Methods

This was a multicenter report of four

SUBMITTER: Verge CF 

PROVIDER: S-EPMC3513545 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature