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GENATLAS PHENOTYPE

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

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