Lipoic Acid Synthetase Deficiency

Disorder

• Name: Lipoic Acid Synthetase Deficiency
• Category: Mendelian
• Existing deep-research providers: falcon
• Existing evidence reference count in YAML: 25

Key Pathophysiology Nodes

• Defective lipoic acid synthesis via LIAS deficiency
• Combined alpha-ketoacid dehydrogenase and glycine cleavage deficiency
• Deep research literature mapping

Citation Inventory (for evidence mapping)

• DOI:10.1016/j.ajhg.2011.11.011
• DOI:10.1038/s41589-022-01159-4
• DOI:10.1098/rsob.220274
• DOI:10.3390/antiox13081023