Oxoglutaric aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme oxoglutarate dehydrogenase. This enzyme is responsible for breaking down the amino acid oxoglutarate, which is a byproduct of the metabolism of certain proteins. People with this disorder are unable to properly break down oxoglutarate, leading to a buildup of this compound in the body. Symptoms of oxoglutaric aciduria can include seizures, developmental delays, and intellectual disability.

The symptoms of Oxoglutaric aciduria can vary from person to person, but may include:

-Developmental delay
-Seizures
-Intellectual disability
-Growth retardation
-Feeding difficulties
-Vomiting
-Lethargy
-Weakness
-Hypotonia
-Hyperammonemia
-Hyperammonemic encephalopathy
-Lactic acidosis
-Ketosis
-Hypoglycemia
-Hyperglycemia
-Hyperuricemia
-Hyperlipidemia
-Hypercalcemia
-Hyperphosphatemia
-Hypokalemia
-Hypocalcemia
-Hypophosphatemia
-Aminoaciduria
-Glycosuria
-Hyperammonemia
-Hyperammon

Oxoglutaric aciduria is a rare inherited metabolic disorder caused by a deficiency of the enzyme oxoglutarate dehydrogenase (OGDH). This enzyme is responsible for the breakdown of oxoglutarate, an intermediate in the Krebs cycle. Without this enzyme, oxoglutarate accumulates in the body, leading to a variety of symptoms. The exact cause of this disorder is unknown, but it is believed to be caused by mutations in the OGDH gene.

The primary treatment for oxoglutaric aciduria is dietary management. This includes avoiding foods that are high in oxoglutarate, such as red meat, poultry, and fish. It is also important to ensure that the diet is balanced and contains adequate amounts of essential vitamins and minerals.

In addition to dietary management, supplementation with thiamine, riboflavin, and other B vitamins may be recommended. In some cases, medications such as carnitine may be prescribed to help the body metabolize oxoglutarate more efficiently. In severe cases, a liver transplant may be necessary.

1. Genetic mutations in the OGDH gene
2. Consanguinity
3. Exposure to certain environmental toxins
4. Certain medications
5. Advanced age
6. Poor nutrition
7. Alcohol consumption
8. Smoking

At this time, there is no known cure for oxoglutaric aciduria. However, there are medications that can help manage the symptoms of the condition. These medications include carnitine, riboflavin, and thiamine. Additionally, dietary modifications may be recommended to help reduce the amount of oxoglutaric acid in the body.