Contents

Search

phosphoenolpyruvate carboxykinase deficiency

Genetics: - associated with defects in PEPCK2 (mitochondrial phosphoenolpyruvate carboxykinase) Clinical manifestations: - hypoglycemia Laboratory: - hypoglycemia

General

enzyme deficiency

Database Correlations

OMIM 261650

References

  1. OMIM :accession 261650
  2. UniProt :accession Q16822