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Tag: Neurometabolic disease

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Understanding What Are the Symptoms of a Lipoic Acid Deficiency: Insights into a Rare Genetic Disorder

2 min read
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.