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Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities

Cyberian Codex MONDO:0060562

Disorder

  • Name: Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
  • Category: Mendelian
  • Existing deep-research providers: falcon
  • Existing evidence reference count in YAML: 29

Key Pathophysiology Nodes

  • Impaired mitochondrial lipoylation via LIPT2 deficiency
  • Combined alpha-ketoacid dehydrogenase deficiency
  • Glycine cleavage system dysfunction
  • Brain glycine accumulation with NMDA receptor overactivation
  • Deep research literature mapping

Citation Inventory (for evidence mapping)