Facial anomalies in D-2-hydroxyglutaric aciduria.
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D-2-hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin.
Amiel
J
J
Département de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.
de Lonlay
P
P
Francannet
C
C
Picard
A
A
Bruel
H
H
Rabier
D
D
Le Merrer
M
M
Verhoeven
N
N
Jakobs
C
C
Lyonnet
S
S
Munnich
A
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology*; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging
D005977:Glutarates; C019417:alpha-hydroxyglutarate