X-LINKED PSYCHOMOTOR DELAY AND ELEVATED SERUM T3 LEVELS CAUSED BY MUTATIONS IN THE MCT8 GENE: DELINEATION OF THE CLINICAL SYNDROME

Abstract

Objectives: Deficient transport of triiodothyronine (T3) into foetal and neonatal brain cells due to abnormalities of the monocarboxylate transporter 8 (MCT8) gene (Xq13.2) has recently been described as a cause for severe psychomotor retardation in boys. This presentation aims to delineate the neurological syndrome of these patients.