Disorders of neurotransmission

Abstract

This chapter deals primarily with inborn errors of neurotransmitter metabolism. Defects of their receptors and transporters – and disorders involving vitamine B6 (pyridoxine) and its derivative, pyridoxal phosphate, a co-factor required for the synthesis of several neurotransmitters – are also discussed. Three defects of GABA catabolism have been reported: GABA transaminase deficiency(which is very rare, severe and untreatable), succinic semialdehyde dehydrogenase (SSADH) deficiency, and homocarnosinosis (Fig. 29.1).