| Test: |
Pyruvate dehydrogenase subunit |
| Alternate names: |
PDHA1 |
| Description: |
The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA. The PDH complex is composed of multiple copies of 3 enzymes: pyruvate decarboxylase (E1); dihydrolipoyl transacetylase (DLAT) (E2); and dihydrolipoyl dehydrogenase (DLD) (E3). The PDHA1 gene encodes the alpha subunit. Pyruvate decarboxylase (E1) is the first of 3 enzymes in the pyruvate dehydrogenase (PDH) complex. The alpha and beta subunit of the E1 enzyme are encoded by the PDHA and PDHB genes, respectively. The E1 enzyme is a heterotetramer of 2 alpha and 2 beta subunits. The E1-alpha subunit contains the E1 active site, which plays a key role in the function of the PDH complex. PDHA1 is the most frequently mutated gene in patients with pyruvate dehydrogenase complex deficiency. The PDH1 gene contains 11 coding exons and is located Xp22.2-p22.1.
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| Clinical: |
Most affected patients are male with deficiency in pyruvate dehydrogenase E1 activity, severe lactic acidosis and neurological problems. Most male patients die at an early age. Affected females have severe developmental delay from an early age, agenesis of the corpus callosum, cortical atrophy, microcephaly, and spastic quadriplegia. The severity of the deficiency in affected females largely depends on the pattern of X inactivation in the brain.
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| Methodology: |
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| Turn around time: |
3 months |
| Transit stability: |
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| Comments: |
If possible PDH enzyme activity |
| Sample: |
Blood clotted 2 ml |
| Type: |
Genetics |
| Method: |
Gene sequencing |
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| Consultant/scientist: |
Dr Fierdoz Omar |
| Tel: |
021 404 4118 |
| email: |
fierdoz.omar@uct.ac.za |
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| Contact for results: |
Ms Surita Meldau |
| Tel: |
021 404 4449 |
| email: |
surita.meldau@uct.ac.za |
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| Delivery address |
C17 NHLS Labs, NGSH, Observatory, 7925 |
| for samples: |
Cape Town |
