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Paediatric Laboratory Medicine

Pyruvate Dehydrogenase - E3

Clinical Significance

To measure the activity of lipoamide dehydrogenase

Test Name

Pyruvate Dehydrogenase - E3

Alternate Name/ Synonym

Lipoamide Dehydrogenase (E3 subunit of PDH)

Gene Name

Caused by mutations in DLD (OMIM *238331). This subunit is shared with aKG and BCKADH.

Division

Mitochondrial Disease

Method

Spectrophotometric Measurements at 340nm (use black walled cuvettes)

Turn Around Time

Fibroblasts: 3 weeks - 3 months

Disease/Condition

Lipoamide Dehydrogenase Deficiency (Leigh's)

Specimen Type

Suspensions from fibroblast cell cultures.

Minimum Specimen Requirements

1 dish of cells

Optimal Collection Time

For fibroblasts anytime

Storage/Transportation

Cell are kept in TC incubator prior to assay

Special Requirements

Tissue culture incubator

Shipping and Contact Information

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

Reference Range

  • Fibroblast lysates: 15.99-52.88 nmol/mg/min (NAD to NADH)
  • Fibroblast lysates: 9.31-27.95 nmol/mg/min (NADH to NAD)

Interpretation

PDH-E3 is made up of 6 dimers which have tight binding sites for flavine adenine nucleotides (FAD).