Anaplerosis: the metabolic pathways that replenish TCA cycle intermediates. Explore disorders, therapies, and the frontier of anaplerotic medicine.
Board-Certified Clinical Geneticists
Content is authored and reviewed by board-certified clinical geneticists specializing in rare disease diagnosis, variant interpretation, and clinical informatics.
The TCA cycle is the metabolic crossroads of every cell. When anaplerotic pathways fail—due to inherited enzyme deficiencies in pyruvate carboxylase, propionyl-CoA carboxylase, or fatty acid oxidation enzymes—the clinical consequences are devastating: metabolic crises, cardiomyopathy, neurodegeneration, and sudden death in infancy.
The 2020 FDA approval of triheptanoin (Dojolvi®) marked the first therapy explicitly designed around anaplerotic biochemistry. This site tracks the science behind that breakthrough and the expanding frontier of anaplerotic medicine—from Huntington disease to refractory epilepsy to cancer immunometabolism.
All content on Anaplerosis is written or reviewed by a board-certified clinical geneticist. We cite peer-reviewed literature, use evidence-based frameworks, and update content as new research emerges.
This site is intended for educational purposes. It does not replace professional medical advice, diagnosis, or treatment.
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