RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164070933
T1 Glutaric Acidemia Type I (GA-I)
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164070933
RD 2024/04/24
AB Progressive  inherited  neurologic  disorder  caused  by  a  genetically  transmitted  inborn  error  of  metabolism  leading  to  break  down  completely  the  amino  acids  lysine,  hydroxylysine  and  tryptophan.  Excessive  levels  of  their  intermediate  breakdown  products,  ie,  glutaric  acid,  glutaryl-CoA,  3-hydroxyglutaric  acid,  and  glutaconic  acid  can  accumulate  and  cause  damage  to  the  brain.  The  basal  ganglias  are  most  often  affected  which  may  cause  neurological  irregular  movement.  Mental  retardation  may  occur.