Title

Disorders of neurotransmission

Document Type

Article

Publication Date

1-1-2012

Abstract

© Springer- Verlag Berlin Heidelberg 2000, 2006, 2012. 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).

Publication Title

Inborn Metabolic Diseases: Diagnosis and Treatment

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