RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164067394
T1 D-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=1164067394
RD 2024/04/25
AB It  is  a  rare  neurometabolic  disease  caused  by  an  increased  level  of  hydroxyglutaric  acid  in  the  urine.  It  is  one  of  the  isomeric  forms  of  the  2-hydroxyglutaric  aciduria.  Clinically,  the  D-2-hydroxyglutaric  aciduria  has  two  phenotypes,  mild  and  severe.  Affected  individuals  present  depending  on  the  phenotype  variable  clinical  manifestation.  The  severe  types  include  psychomotor  retardation,  generalized  hypotonia,  macrocephaly,  cardiomyopathy,  and  cortical  blindness.  Other  features  include  abnormalities  of  the  cerebrum  and  seizures.  The  mild  phenotype  has  variable  symptomatology.