About D,L-2-hydroxyglutaric aciduria
What is D,L-2-hydroxyglutaric aciduria?
D,L-2-hydroxyglutaric aciduria is an inherited metabolic disorder caused by a deficiency of the enzyme 2-hydroxyglutarate dehydrogenase. This enzyme is responsible for breaking down the amino acid 2-hydroxyglutarate, which is a byproduct of the metabolism of certain amino acids. People with this disorder have an accumulation of 2-hydroxyglutarate in their bodies, which can lead to a variety of neurological and physical symptoms.
What are the symptoms of D,L-2-hydroxyglutaric aciduria?
The symptoms of D,L-2-hydroxyglutaric aciduria can vary from person to person, but may include:
-Developmental delay
-Seizures
-Movement disorders
-Intellectual disability
-Behavioral problems
-Growth retardation
-Feeding difficulties
-Hypotonia
-Abnormal muscle tone
-Abnormal gait
-Hearing loss
-Vision problems
-Kidney problems
-Liver problems
-Heart problems
-Skin abnormalities
What are the causes of D,L-2-hydroxyglutaric aciduria?
D,L-2-hydroxyglutaric aciduria is a rare inherited metabolic disorder caused by mutations in the D2HGDH gene. This gene provides instructions for making an enzyme called D-2-hydroxyglutarate dehydrogenase, which is involved in breaking down certain molecules in the body. Mutations in the D2HGDH gene lead to a decrease in the activity of this enzyme, resulting in an accumulation of D,L-2-hydroxyglutarate in the body. This accumulation can cause a variety of symptoms, including intellectual disability, seizures, and movement problems.
What are the treatments for D,L-2-hydroxyglutaric aciduria?
The primary treatment for D,L-2-hydroxyglutaric aciduria is dietary management. This includes avoiding foods that are high in protein, such as red meat, dairy, and eggs, and eating a diet that is low in carbohydrates and high in healthy fats and proteins. Additionally, supplements such as carnitine, thiamine, and biotin may be recommended to help manage symptoms. In some cases, medications such as valproic acid may be prescribed to help reduce the levels of D,L-2-hydroxyglutaric acid in the body. Finally, regular monitoring of blood and urine levels of D,L-2-hydroxyglutaric acid is recommended to ensure that the condition is being managed properly.
What are the risk factors for D,L-2-hydroxyglutaric aciduria?
1. Genetic mutations: Mutations in the D2HGDH gene, which is responsible for the production of the enzyme 2-hydroxyglutaric acid dehydrogenase, can cause D,L-2-hydroxyglutaric aciduria.
2. Family history: Having a family history of D,L-2-hydroxyglutaric aciduria increases the risk of developing the condition.
3. Ethnicity: D,L-2-hydroxyglutaric aciduria is more common in certain ethnic groups, such as Ashkenazi Jews.
4. Age: D,L-2-hydroxyglutaric aciduria is more common in infants and young children.
Is there a cure/medications for D,L-2-hydroxyglutaric aciduria?
At this time, there is no known cure for D,L-2-hydroxyglutaric aciduria. However, there are medications that can help manage the symptoms of the condition. These medications include anticonvulsants, such as valproic acid, and vitamins, such as thiamine and biotin. Additionally, dietary modifications may be recommended to help reduce the levels of D,L-2-hydroxyglutaric acid in the body.