2-Aminoadipic 2-oxoadipic aciduria is an inherited disorder caused by a deficiency of the enzyme 2-aminoadipic acid oxidase. This enzyme is responsible for breaking down the amino acid 2-aminoadipic acid, which is found in proteins. Without this enzyme, 2-aminoadipic acid builds up in the body and is excreted in the urine, leading to a condition known as 2-aminoadipic 2-oxoadipic aciduria. Symptoms of this disorder can include intellectual disability, seizures, and movement disorders.

The symptoms of 2-aminoadipic 2-oxoadipic aciduria include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hypotonia
-Hypertonia
-Abnormal movements
-Behavioral problems
-Hearing loss
-Vision problems
-Kidney problems
-Liver problems
-Heart problems
-Skeletal abnormalities
-Skin abnormalities

2-Aminoadipic 2-oxoadipic aciduria is a rare inherited disorder caused by mutations in the gene that codes for the enzyme 2-aminoadipic acid oxidase (2-AAO). Mutations in this gene lead to a deficiency of the enzyme, which is responsible for breaking down the amino acid lysine. Without this enzyme, lysine accumulates in the body, leading to the symptoms of 2-aminoadipic 2-oxoadipic aciduria.

1. Dietary management: A low-protein diet is recommended to reduce the amount of 2-aminoadipic 2-oxoadipic acid in the body.

2. Medication: Medications such as sodium benzoate, sodium phenylbutyrate, and glycine may be prescribed to help reduce the levels of 2-aminoadipic 2-oxoadipic acid in the body.

3. Supplementation: Supplementation with vitamins and minerals may be recommended to help reduce the levels of 2-aminoadipic 2-oxoadipic acid in the body.

4. Enzyme replacement therapy: Enzyme replacement therapy may be recommended to help reduce the levels of 2-aminoadipic 2-oxoadipic acid in the body.

5. Gene therapy: Gene therapy may

1. Genetic mutations in the ACSF3 gene, which is responsible for the production of the enzyme 2-aminoadipic 2-oxoadipic acid synthase.

2. Consanguinity, or a close relationship between two individuals, such as between parents and their children.

3. Exposure to certain environmental toxins, such as lead or mercury.

4. Certain medications, such as anticonvulsants or antibiotics.

5. A family history of 2-aminoadipic 2-oxoadipic aciduria.

At this time, there is no known cure for 2-aminoadipic 2-oxoadipic aciduria. However, there are medications that can help manage the symptoms of the condition. These medications include carnitine supplements, which can help reduce the levels of 2-aminoadipic 2-oxoadipic acid in the body, and anticonvulsants, which can help reduce the risk of seizures. Additionally, dietary modifications may be recommended to help reduce the levels of 2-aminoadipic 2-oxoadipic acid in the body.