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Paediatric Laboratory Medicine

Pyruvate Decarboxylase - E1

Clinical Significance

To measure the activity of E1-PDH dehydrogenase.

Test Name

Pyruvate Decarboxylase - E1

Alternate Name/ Synonym

  • E1 Subunit of Pyruvate Dehydrogenase

Gene Name

  • Caused by mutations in X-linked PDHA1 (OMIM *300502) or PDHB (OMIM *179060)

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 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: 0.79-6.60 nmol/hr/mg protein

Note: Very sensitive assay and there will be variations in the replicate samples.

Interpretation

The activity of the complex is regulated by phosphorylation/dephosphorylation of three phospho-serine residues in the  subunit of E1-PDH. The complex is inactive when it is phosphorylated and active when it is diphosphorylated.