Solute Carrier Family 16, Member 2 (SLC16A2)

MCT8, also known as SLC16A2, is believed to be account for a significant fraction of the undiagnosed neurological disorders. This genetic defect was known as Allan-Herndon-Dudley syndrome without knowing its actual cause. Some of the symptoms for this disorder as are follows: normal to slightly elevated TSH, elevated T3 and reduced T4 . Normal looking at birth and for the first few years, hypotonic, in particular difficulty to hold the head, possibly difficulty to thrive, possibly with delayed myelination, possibly with decreased mitochondrial enzyme activities, possibly with fluctuating lactate level. Patients have an alert face, a limited IQ, patients may never talk/walk, 50% need feeding tube, patients have a normal life span. This disease can be ruled out with a simple TSH/T4/T3 thyroid test.