Inheritance from both parents will result in the disease
Age range at onset:
Age range at onset: Infancy or early childhood
Specialists you may see:
One of three major types of 2-hydroxyglutaric aciduria, a condition causing progressive brain damage. Another type, D-2- hydroxyglutaric aciduria, affects muscle movement, speech, vision, emotion, thinking and memory. The third type is combined D,L-2- hydroxyglutaric aciduria, causing severe abnormalities. Those with the combined type rarely survive past early childhood.
So far, D2 form is associated with more of Grey matter involvement and other system involvement. From our knowledge, currently we think L-2 HGA affects white matter more than grey matter.
L-2-hydroxyglutaric aciduria symptoms are progressive brain damage, developmental delay, speech difficulties, seizures and macrocephaly. Problems with balance and muscle coordination are also common. By early adulthood, those with this condition will have severe disability.
Caused by mutations in the L2HGDH gene. This gene makes an enzyme found in mitochondria which breaks down a compound in order to produce energy. Mutations cause a shortage in this enzyme, allowing the compound to build up. This can damage and destroy cells, with brain cells appearing to be the most vulnerable to this.