Tag: Genetic deficiency

Genetic studies reveal that alpha-1 antitrypsin (AAT) is a protein, not a vitamin, and is encoded by the SERPINA1 gene. It is a critical protective protein synthesized in the liver that safeguards the lungs from harmful enzyme activity. A deficiency is an inherited genetic condition, not a nutritional one, although certain vitamins play a supportive role in overall health.

According to the International Society of DAO Deficiency, the timeline for improving symptoms related to low diamine oxidase (DAO) enzyme activity is highly individual. Understanding **how long does it take to restore DAO enzyme** depends on the root cause—whether the deficiency is acquired and reversible, or has a permanent genetic basis that requires long-term management.

Lipoic acid deficiency, particularly the inherited form known as Lipoic Acid Synthetase (LIAS) deficiency, is a very rare neurometabolic disease with a prevalence of less than 1 in 1,000,000 people. Unlike deficiencies caused by diet, the symptoms of this condition are the result of genetic mutations that prevent the body from properly synthesizing this essential compound within the mitochondria.