Sengers syndrome

Cyberian Codex MONDO:0008922

Disorder

  • Name: Sengers syndrome
  • Category: Mendelian
  • Existing deep-research providers: falcon
  • Existing evidence reference count in YAML: 49

Key Pathophysiology Nodes

  • AGK loss of function disrupts lipid signaling
  • TIM22 complex assembly defect
  • Reduced TIM22-mediated import of inner-membrane carrier proteins
  • Impaired mitochondrial one-carbon metabolism
  • Disrupted mitochondrial phospholipid metabolism
  • Oxidative phosphorylation deficiency
  • Deep research literature mapping

Citation Inventory (for evidence mapping)