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Diseases

Genetic and Rare Diseases Information Center (GARD)

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PEPCK 2 deficiency


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Other Names for PEPCK 2 deficiency

  • Carbohydrate deficient glycoprotein syndrome type Ia
  • CDG syndrome type Ia
  • CDG-Ia
  • CDG1A
  • Congenital disorder of glycosylation type 1a
  • Congenital disorder of glycosylation type Ia
  • PCK2 deficiency
  • PEPCK2
  • Phosphoenolpyruvate carboxykinase 2 deficiency
  • Phosphomannomutase 2 deficiency
  • PMM2-CDG
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.