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Paediatric Laboratory Medicine

Pyruvate Carboxylase

Clinical Significance

To measure the total activity of pyruvate carboxylase

Test Name

Pyruvate Carboxylase

Alternate Name/ Synonym

  • PC

Gene Name

Caused by mutations in PC (OMIM *608786)


Mitochondrial Disease


Radioactive assay (1-14C Sodium Bicarbonate)

Turn Around Time

3 weeks - 3 months


  • PC Deficiency (Metabolic Acidosis, Hyperammonemia, Mental retardation)

Specimen Type

Suspensions from fibroblast, amniocytes and lymphoblast cell cultures.

Minimum Specimen Requirements

Use one plate / flask per sample

Optimal Collection Time



Cells 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 lysates: 0.35-5.18 nmol/mg/min
  • Leucocyte extract: 0.3 - 3.5 nmol/mg/min
  • Lymphoblast extract: 0.3 - 3.5 nmol/mg/min


Pyruvate Carboxylase is a nuclear-encoded biotin-dependent mitochondrial enzyme that catalyses the ATP-driven formation of oxaloacetate from pyruvate and bicarbonate. There is a significant variability in the normal ranges of PC activity associated with the general condition of the cells and the number of passages they have undergone.