D-2-hydroxyglutaric aciduria is an inherited metabolic disorder caused by a deficiency of the enzyme D-2-hydroxyglutarate dehydrogenase. This enzyme is responsible for breaking down the amino acid D-2-hydroxyglutarate, which is a byproduct of the metabolism of certain amino acids. People with this disorder have an accumulation of D-2-hydroxyglutarate in their bodies, which can lead to a variety of neurological and physical symptoms. These can include seizures, developmental delays, movement disorders, and intellectual disability.

The symptoms of D-2-hydroxyglutaric aciduria can vary from person to person, but may include:

-Developmental delay
-Seizures
-Movement disorders
-Intellectual disability
-Growth retardation
-Feeding difficulties
-Behavioral problems
-Abnormal muscle tone
-Abnormal eye movements
-Hearing loss
-Heart defects
-Kidney problems
-Liver problems
-Gastrointestinal problems
-Skin abnormalities

D-2-hydroxyglutaric aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme D-2-hydroxyglutarate dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine. Without it, leucine builds up in the body and is converted into D-2-hydroxyglutaric acid, which can cause a variety of symptoms. The disorder is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. The mutations responsible for D-2-hydroxyglutaric aciduria have been identified in the D2HGDH gene.

The primary treatment for D-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-2-hydroxyglutaric acid in the body. In severe cases, a liver transplant may be necessary.

1. Genetic mutations: Mutations in the D2HGDH gene can cause D-2-hydroxyglutaric aciduria.

2. Family history: Having a family history of D-2-hydroxyglutaric aciduria increases the risk of developing the condition.

3. Ethnicity: D-2-hydroxyglutaric aciduria is more common in people of Ashkenazi Jewish descent.

4. Age: D-2-hydroxyglutaric aciduria is more common in infants and young children.

At this time, there is no known cure for D-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 medications to help control muscle spasms, such as baclofen. Additionally, dietary modifications may be recommended to help reduce the levels of D-2-hydroxyglutaric acid in the body.