l-Serine synthesis in the central nervous system: A review on serine deficiency disorders

Research output: Contribution to journalReview article


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.


External organisations
  • University Medical Center Utrecht
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics


  • 3-PGDH deficiency, d-Serine, l-Serine, PSAT deficiency, PSPH deficiency
Original languageEnglish
Pages (from-to)256-262
JournalMolecular Genetics and Metabolism
Issue number3
Publication statusPublished - 2010 Mar 1
Publication categoryResearch
Externally publishedYes