Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

Phosphoenolpyruvate Carboxykinase

Clinical Significance

To measure the activity of PEPCK

Test Name

Phosphoenolpyruvate Carboxykinase

Alternate Name/ Synonym


Gene Name

  • Caused by mutations in PCK2 (OMIM *614095)


Mitochondrial Disease


Radioactive assay (1-14C Sodium Bicarbonate)

Turn Around Time

3 weekks - 3 months


  • PEPCK Deficiency. Patients present with lactic acidosis and a variety of symptoms (hypoglycemia, hypotonia, hepatomegaly, failure to thrive, etc.).

Specimen Type

Only for testing of suspensions from fibroblast cell cultures

Minimum Specimen Requirements

Use one plate / flask per sample

Optimal Collection Time



Cell are kept in TC incubator prior to assay

Special Requirements

This is a radioactive assay and all safety measures required for work with radioactive materials should be strictly observed. This procedure requires 24-48 hr for completion.

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212

Reference Range

  • Fibroblast extract: 0.28-3.07 nmol/mg/min


A defect of this enzyme is rarely reported as a cause of lactic acidemia in childhood. The enzyme is thought to play an essential role in the regulation of the pool size of 4-carbon intermediates. It has been shown that the majority of PEPCK in fibroblast is mitochondrial in origin.