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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-04-2013
Symbol D2L2AD
Location 22q11.21
Name D-2- and L-2-hydroxyglutaric aciduria
Corresponding gene SLC25A1
Main clinical features
  • neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, agenesis of corpus callosum and optic nerve hypoplasia, respiratory distress, and lack of psychomotor development resulting in early death
  • brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts
  • mitochondrial citrate carrier deficiency
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease