RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164076120
T1 L-2-Hydroxyglutaric Aciduria
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164076120
RD 2024/04/25
AB It  is  a  rare  neurometabolic  inborn  error  manifesting  as  progressive  neurodegenerative  disorder  with  psychomotor  retardation.  It  is  characterized  by  increased  hydroxyglutaric  acid  in  the  urine.  The  clinical  presentation  is  characterized  by  mental  retardation,  moderate  to  severe  seizures,  muscular  dystonia,  encephalitis,  and  dysphagia.