L-2 Hydroxyglutaric Aciduria
What else is it called?
- L-2 HGA
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What causes it?
This disorder is 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.
How common is it?
This condition had been reported in fewer than 150 individuals with no higher prevalence reported in either sex or any specific ethnicity.
What are the signs and symptoms?
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 (an enlarged skull). Problems with balance and muscle coordination are also common. By early adulthood, those with this condition will have severe disability.
How is it diagnosed?
Diagnosis may be determined by the acknowledgement of physical symptoms, a patient and family history, and a range of specialised tests including blood and urine analysis and brain MRI or CT scans. Genetic testing can confirm diagnosis.
Can it be treated?
There is no cure for this disorder. Treatment is currently based on alleviating and managing the individual symptoms which are present, avoiding complications, improving nutrition, limiting progression, and providing support for your child and your family as a whole.
Prognosis is poor, but most people with L-2 Hydroxyglutaric Aciduria reach adulthood.
Do my family need to be tested?
Humans have chromosomes composed of DNA. Genes are pieces of DNA that carry the genetic instruction. Each chromosome may have several thousand genes.
The word mutation means a change or error in the genetic instruction.
We inherit particular chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instruction that determines characteristics, which are a combination of the parents.
This is an inherited condition. There is nothing that could have been done to prevent your baby from having this condition.
Everyone has a pair of L2HGDH genes. In children with this disorder, neither of these genes works correctly. These children inherit one non-working gene from each parent.
Parents of children with this disorder are termed as carriers of the condition. Carriers do not have the disorder because the other gene of this pair is working correctly. This disorder is autosomal recessive.
When both parents are carriers, in each pregnancy the risk to the baby is as follows:
- There is a 25% chance (1 in 4) of the baby having the disorder.
- There is a 50% chance (1 in 2) for the baby to be a carrier of the disorder.
- There is a 25% chance (1 in 4) for the baby to have two working genes and neither have the disorder nor be a carrier