RT Book, Section
A1 de Koning, T. J.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181436415
T1 Serine deficiency disorders
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181436415
RD 2024/04/23
AB Serine  deficiency  disorders  comprise  a  relatively  new  group  of  neurometabolic  disorders  and  are  caused  by  defects  in  the  biosynthesis  of  the  amino  acid  L-serine.  Patients  suffer  from  severe  neurological  symptoms  such  as  microcephaly,  psychomotor  retardation  and  seizures,  symptoms  that  underscore  the  roles  of  the  L-serine  pathway  in  brain  development  and  function.  In  contrast  to  many  neurometabolic  disorders,  serine  deficiency  disorders  are  treatable  disorders,  albeit  that  prompt  recognition  and  treatment  are  of  outmost  importance.  In  this  chapter,  I  will  discuss  the  cellular  functions  of  the  L-serine  pathway,  the  clinical  and  biochemical  findings  as  well  as  the  genetic  defects  associated  with  serine  deficiency.