ORPHA:2880

Phosphoenolpyruvate carboxykinase deficiency

Also called PEPCK deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive, Mitochondrial inheritance

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:2880 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.