Dicarboxylic aminoaciduria is a rare inherited disorder that affects the metabolism of certain amino acids. It is caused by a deficiency of the enzyme dicarboxylase, which is responsible for breaking down certain amino acids. People with this disorder have an accumulation of dicarboxylic amino acids in their urine, which can lead to a variety of health problems. Symptoms may include poor growth, intellectual disability, seizures, and behavioral problems. Treatment typically involves dietary modifications and supplementation with certain amino acids.

The symptoms of Dicarboxylic aminoaciduria include:

-Poor growth
-Developmental delay
-Intellectual disability
-Seizures
-Behavioral problems
-Feeding difficulties
-Vomiting
-Diarrhea
-Abdominal pain
-Muscle weakness
-Liver and kidney problems
-High levels of dicarboxylic amino acids in the urine

Dicarboxylic aminoaciduria is a rare inherited disorder caused by a genetic mutation in the SLC1A1 gene. This gene is responsible for the production of a protein called the glutamate-aspartate transporter (GLAST). This protein is responsible for transporting certain amino acids, including aspartate and glutamate, across the cell membrane. Mutations in the SLC1A1 gene can lead to a decrease in the amount of GLAST protein produced, resulting in an accumulation of dicarboxylic amino acids in the body.

1. Dietary management: A low-protein diet is recommended to reduce the amount of dicarboxylic amino acids in the body.

2. Medication: Medications such as sodium benzoate, sodium phenylbutyrate, and sodium phenylacetate can be used to reduce the levels of dicarboxylic amino acids in the body.

3. Enzyme replacement therapy: Enzyme replacement therapy is a treatment option for some types of dicarboxylic aminoaciduria. This involves replacing the missing enzyme with a synthetic version.

4. Gene therapy: Gene therapy is a potential treatment option for some types of dicarboxylic aminoaciduria. This involves introducing a healthy gene into the body to replace the missing or defective gene.

5. Liver transplant: In some

1. Genetic mutations in the SLC25A1 gene
2. Consanguinity
3. Advanced paternal age
4. Exposure to certain environmental toxins
5. Certain medications
6. Maternal diabetes
7. Maternal obesity
8. Maternal malnutrition

At this time, there is no known cure for dicarboxylic aminoaciduria. However, there are medications that can help manage the symptoms of the condition. These medications include amino acid supplements, vitamins, and medications to help control seizures. Additionally, dietary modifications may be recommended to help reduce the amount of dicarboxylic amino acids in the diet.