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People with pyruvate dehydrogenase deficiency also have neurological issues. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain, wasting away from the cerebral cortex's exterior portion of the brain, or patches of damaged tissue on certain regions of the brain's brain. Many people with pyruvate dehydrogenase deficiency do not live beyond childhood, although some may live into adolescence or adulthood.
Pyruvate carboxylase deficiency is an inherited disease that causes lactic acid and other potentially harmful chemicals to accumulate in the blood. At least three forms of pyruvate carboxylase deficiency have been identified by researchers' findings, which are characterized by the severity of their signs and symptoms. In several instances, episodes of lactic acidosis are triggered by an illness or periods without food. Children with pyruvate carboxylase deficiency type A are typically born in infancy or early childhood. Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent soon after birth. Infants affected by severe lactic acidosis, ammonia buildup in the blood, and liver failure have been observed since birth. Infants with this disease generally live for fewer than three months after birth. Deficiency deficiency, which is often described as type C, has also been identified.
People with hyperprolinemia type I have no signs of symptoms, but they do have proline levels in their blood between 3 and ten times the average. Some people with hyperprolinemia type I have seizures, intellectual impairment, or other medical or psychiatric disorders. This form of the disorder is more likely than type I to have seizures or intellectual disorders that differ in severity. Hyperprolinemia may occur in patients with elevated levels of lactic acid in the blood, in particular, because lactic acid blocks proline breakdown.
Mildly affected individuals with ACAD9 deficiency usually have nausea and exhaustion as a result of physical fitness. People with ACAD9 deficiency who are moderately affected have poor muscle tone and muscle weakness in the muscles that are used for movement. Individuals with ACAD9 deficiency who live past early childhood have an intellectual deficit and can lead to seizures. With therapy, some people with ACAD9 deficiency have increased muscle strength and a reduction in lactic acid levels.
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