About D-glyceric aciduria

What is D-glyceric aciduria?

D-glyceric aciduria is an inherited metabolic disorder caused by a deficiency of the enzyme D-glycerate dehydrogenase. This enzyme is responsible for the breakdown of the amino acid glycine, which is found in many foods. People with this disorder are unable to properly break down glycine, leading to an accumulation of D-glyceric acid in the body. Symptoms of D-glyceric aciduria can include seizures, developmental delays, and intellectual disability.

What are the symptoms of D-glyceric aciduria?

The symptoms of D-glyceric aciduria include:

-Developmental delay
-Seizures
-Feeding difficulties
-Growth retardation
-Hypotonia
-Lethargy
-Vomiting
-Poor muscle tone
-Hyperactivity
-Behavioral problems
-Intellectual disability
-Abnormal movements
-Hearing loss
-Vision problems
-Kidney problems
-Liver problems
-Heart problems
-Skin rashes

What are the causes of D-glyceric aciduria?

D-glyceric aciduria is a rare inherited disorder caused by a deficiency in the enzyme D-glycerate dehydrogenase. This enzyme is responsible for converting D-glycerate into glyoxylate, which is an important intermediate in the Krebs cycle. Without this enzyme, D-glycerate accumulates in the body, leading to the symptoms of D-glyceric aciduria.

What are the treatments for D-glyceric aciduria?

The primary treatment for D-glyceric aciduria is dietary management. This includes avoiding foods that are high in D-glyceric acid, such as certain fruits, vegetables, and dairy products. Additionally, a low-protein diet may be recommended to reduce the amount of D-glyceric acid in the body. Supplementation with vitamins and minerals may also be recommended to help prevent deficiencies. In some cases, medications such as riboflavin and biotin may be prescribed to help reduce the levels of D-glyceric acid in the body.

What are the risk factors for D-glyceric aciduria?

1. Genetic predisposition: D-glyceric aciduria is an inherited disorder caused by mutations in the GCS1 gene.

2. Premature birth: Babies born prematurely are at an increased risk of developing D-glyceric aciduria.

3. Low birth weight: Babies born with a low birth weight are at an increased risk of developing D-glyceric aciduria.

4. Exposure to certain medications: Certain medications, such as valproic acid, can increase the risk of developing D-glyceric aciduria.

5. Exposure to certain environmental toxins: Exposure to certain environmental toxins, such as lead, can increase the risk of developing D-glyceric aciduria.

Is there a cure/medications for D-glyceric aciduria?

There is no known cure for D-glyceric aciduria. However, some medications may be used to help manage the symptoms. These include dietary supplements, such as carnitine, and medications to reduce the amount of D-glyceric acid in the body, such as sodium benzoate. Additionally, a low-protein diet may be recommended to reduce the amount of D-glyceric acid produced in the body.