L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
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.
Tabatabaie
L
L
Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht and Netherlands Metabolomics Centre, The Netherlands. l.tabatabaie@umcutrecht.nl
Klomp
L W
LW
Berger
R
R
de Koning
T J
TJ
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000818:Animals; D001921:Brain / Q000378:metabolism; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics; D002490:Central Nervous System / Q000378:metabolism*; D006801:Humans; D051379:Mice; D009154:Mutation; D050543:Phosphoglycerate Dehydrogenase / Q000172:deficiency / Q000235:genetics; D010744:Phosphoric Monoester Hydrolases / Q000172:deficiency / Q000235:genetics; D051381:Rats; D012694:Serine / Q000096:biosynthesis* / Q000172:deficiency*; D013577:Syndrome; D000637:Transaminases / Q000172:deficiency / Q000235:genetics
D012694:Serine; D050543:Phosphoglycerate Dehydrogenase; D000637:Transaminases; C022393:phosphoserine aminotransferase; D010744:Phosphoric Monoester Hydrolases; C022394:phosphoserine phosphatase