Tag: Lipoic acid synthetase

While the body typically produces all the alpha-lipoic acid it needs, true deficiencies are extremely rare and most often associated with severe, inherited genetic conditions. This profound deficiency can lead to impaired mitochondrial function and early-onset metabolic disorders.

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.