Pyruvate Dehydrogenase - Total Enzyme Activity
Clinical Significance
To measure the total activity of pyruvate dehydrogenase.
Test Name
Pyruvate Dehydrogenase - Total Enzyme Activity
Alternate Name/ Synonym
PDH - Total
Gene Name
- This test can identify deficiencies of E1, E2, E3, E3BP and PDP1 (caused by mutations in PDP1, OMIM #608782)
Division
Mitochondrial Disease
Method
Radioactive assay (1-14C Pyruvate)
Turn Around Time
Fibroblasts: 3 weeks - 3 months;
Disease/Condition
- Leigh's
- Microcephaly
- Developmental Delay
Specimen Type
Suspensions from fibroblast, amniocytes 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).
Storage/Transportation
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
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212
Reference Range
Fibroblasts, Lymphoblasts:
- PDH Native: 0.46-1.60 nmoles/min/mg protein
- PDH Dichloroacetate Activated: 0.87-2.33 nmoles/min/mg protein
Note: Very sensitive assay and there will be variations in the replicate samples.
Interpretation
A PDH deficiency should be suspected in newborn or older children with various neurological symptoms, increased lactate and pyruvate levels in serum and CSF, low to normal L/P ratio, and an increased level of alanine in serum.