Ketoaciduria with mental retardation

Ketoacidosuria is a pathology that leads to a lack of nutrition for the brain and causes mental retardation or cognitive impairment. It is a rare genetic disease and appears in early childhood. The main symptoms of ketoacedosuria are related to developmental delay, nervous system and learning difficulties.

Ketoacidosuria is a rare hereditary disease in which the body accumulates ketones (organic compounds formed when there is a lack of glucose) and amino acids, which must be excreted from the body by the kidneys. Typically, pathological loss of ketones occurs in infants during the first three years of life, and in adults after their immune system weakens.

Ketoacidosis can occur both with an acute lack of insulin or hypoglycemia, and with prolonged fasting, consumption of alcohol and other substances that cause the formation of ketones. This is a condition where the kidney fails to filter out excess phosphate, salts and amino acids and the blood is carried through the kidneys to the bladder, resulting in the accumulation of excess metabolites. If ketones are not removed from the blood, ketoaceduria develops, which can be caused by dysfunction of the liver, kidneys, allergies, diabetes, and viral infections.