1. Academic Validation
  2. L-serine synthesis in the central nervous system: a review on serine deficiency disorders

L-serine synthesis in the central nervous system: a review on serine deficiency disorders

  • Mol Genet Metab. 2010 Mar;99(3):256-62. doi: 10.1016/j.ymgme.2009.10.012.
L Tabatabaie 1 L W Klomp R Berger T J de Koning
Affiliations

Affiliation

  • 1 Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht and Netherlands Metabolomics Centre, The Netherlands. l.tabatabaie@umcutrecht.nl
Abstract

The de novo synthesis of the amino acid L-serine plays an essential role in the development and functioning of the central nervous system (CNS). L-serine displays many metabolic functions during different developmental stages; among its functions providing precursors for Amino acids, protein synthesis, nucleotide synthesis, neurotransmitter synthesis and L-serine derived lipids. Patients with congenital defects in the L-serine synthesizing Enzymes present with severe neurological abnormalities and underscore the importance of this synthetic pathway. In this review, we will discuss the cellular functions of the L-serine pathway, structure and enzymatic properties of the Enzymes involved and genetic defects associated with this pathway.

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