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Genetic and Rare Diseases Information Center (GARD)

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PEPCK 1 deficiency

Other Names for this Disease
  • PEP carboxykinase deficiency
  • Phosphoenolpyruvate carboxykinase deficiency
  • Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency
  • Phosphoenolpyruvate carboxylase deficiency
  • Phosphopyruvate carboxylase deficiency
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