Related Experiment Videos
Facial anomalies in D-2-hydroxyglutaric aciduria
J Amiel1, P de Lonlay, C Francannet
1Département de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.
American Journal of Medical Genetics
|August 17, 1999
Summary
D-2-hydroxyglutaric aciduria, a rare metabolic disorder, can present with distinctive facial anomalies. This finding suggests considering this condition in epileptic encephalopathy cases with unusual facial features.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria.
- The underlying biochemical defect remains unidentified, with potential genetic heterogeneity.
- Clinical presentation is notably variable.
Observation:
- Two unrelated patients with D-2-hydroxyglutaric aciduria and epileptic encephalopathy were studied.
- A review of literature identified minor facial anomalies in three previously reported patients.
- Consistent facial features included a flat face, broad nasal bridge, and ear anomalies.
Findings:
- Minor facial anomalies, specifically a flat face with a broad nasal bridge and ear abnormalities, are associated with D-2-hydroxyglutaric aciduria.
- These dysmorphic features were observed in the current cases and corroborated by literature review.
Implications:
- D-2-hydroxyglutaric aciduria should be considered in the differential diagnosis of epileptic encephalopathy with unexplained minor facial anomalies.
- Further research into the biochemical and genetic basis of D-2-hydroxyglutaric aciduria is warranted.
- Recognition of these facial features may aid in earlier diagnosis and management.