RT Book, Section
A1 Augustine, Erika Fullwood
A1 Poduri, Annapurna
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 7059458
T1 Chapter 577. Neurotransmitter Disorders
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=7059458
RD 2024/04/20
AB The  pediatric  neurotransmitter  disorders  are  a  fairly  recently  described  group  of  inherited  neurometabolic  disorders  related  to  defects  in  neurotransmitter  synthesis  or  breakdown.  These  disorders  may  be  divided  into  defects  of  γ-aminobutyric  acid  (GABA),  glycine  or  monoamine  metabolism,  and  secondary  neurotransmitter  deficiency  states.  This  chapter  will  primarily  discuss  disorders  of  monoamine  metabolism;  we  will  focus  on  the  diseases  best  characterized  to  date,  including  GTP  cyclohydrolase  deficiency,  tyrosine  hydroxylase  deficiency,  aromatic  l-amino  acid  decarboxylase  deficiency,  and  monoamine  A  deficiency.