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Paediatric Laboratory Medicine

Pyruvate Dehydrogenase - E2

Clinical Significance

To measure the activity E2-PDH dehydrogenase.

Test Name

Pyruvate Dehydrogenase - E2

Alternate Name/ Synonym

  • Dihydrolipoyl Transacetylase (E2 subunit of PDH)

Gene Name

  • Caused by mutations in DLAT (OMIM 245348)


Mitochondrial Disease


Radioactive assay (3H-Acetyl CoA)

Turn Around Time

Fibroblasts: 3 weeks - 3 months


  • Dihydrolipoyl Transacetylase Deficiency (Psychomotor retardation)

Specimen Type

Suspensions from fibroblast and lymphoblast cell cultures.

Minimum Specimen Requirements

1 dish of cells. 

*Note: A maximum of 8 cell lines (7 patients and 1 control) can be processed in one run.

Optimal Collection Time

Start in the morning ASAP (assay is time consuming and usually takes whole day).


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.

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

  • Fibroblasts, Lymphoblasts: 3.32-11.11 nmol/hr/mg protein


This method is based on measuring the formation of 3H-labeled acetylated lipoamide, which is soluble in benzene.