Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria.
We report the fourth case of combined D-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.
Read
M-H
MH
Departement Genetique et Reproduction, Centre hospitalier universitaire, Caen, France. read-mh@chu-caen.fr
Bonamy
C
C
Laloum
D
D
Belloy
F
F
Constans
J M
JM
Guillois
B
B
Kottler
M-L
ML
Verhoeven
N M
NM
Jakobs
C
C
D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000378:metabolism*; D003560:Cysts / Q000175:diagnosis; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D005650:Fumarates / Q000097:blood; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D008314:Malonates / Q000097:blood; D009123:Muscle Hypotonia; D012640:Seizures; D013237:Stereoisomerism
D005650:Fumarates; D005977:Glutarates; D008314:Malonates; C019417:alpha-hydroxyglutarate; C038080:ethylmalonic acid; C032005:fumaric acid