mutación Tag

P-186 REDUCED RISK OF WHITE MATTER INJURY ON CEREBRAL MRI AND NEUROPATHOLOGY IN GLUTARIC ACIDEMIA TYPE I PATIENTS HOMOZYGOUS FOR THE GLUTARYL-COA DEHYDROGENASE IVS-1+5 G>T MUTATION 2011

Glutaric acidemia type I (GA-1) is an autosomal recessive disease caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. Irreversible striatal damage occurs during acute encephalopathic crises in infancy causing severe movement disorder and other neurologic deficits. Magnetic resonance imaging (MRI) and neuropathology frequently demonstrate striatal injury and...