The dihydrolipoamide S-acetyltransferase (DLAT) gene encodes dihydrolipoamide acetyltransferase, the E2 subunit of the mammalian pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. Dihydrolipoamide acetyltransferase contains covalently bound lipoic acid, which accepts hydroxyethyl groups from thiamine pyrophosphate bound to pyruvate dehydrogenase (E1), formed by the oxidative decarboxylation of pyruvate, and transfers them to coenzyme A, reducing lipoic acid. Mutations in this gene cause pyruvate dehydrogenase complex E2 deficiency which is associated with primary lactic acidosis, developmental delay, and neurological abnormalities in infancy and early childhood.
DLAT Known Familial Mutation Analysis analysis is available for family members when a mutation has been identified through analysis performed in this laboratory. DLAT Prenatal Diagnosis is also available for families who have had a mutation identified through analysis performed in this laboratory or by special arrangement in advance with the director.
DLAT gene sequencing is available as part of a panel of PDC deficiency genes sequenced. The panel includes PDHA gene sequencing, PDHB gene sequencing, DLD gene sequencing and PDHX gene sequencing.
Indications for Testing
- Confirmation of a clinical/biochemical diagnosis of Pyruvate Dehydrogenase Complex deficiency
- Targeted mutation analysis for known familial mutations
- Prenatal diagnosis for previously identified familial mutations
OMIM #: 608770
Sample Requirements:
- Infants: 2-3 mL whole blood in purple top EDTA tube
- Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube
Cultured fibroblasts and tissue remaining from fresh liver/muscle biopsy performed for enzyme analysis may also be used for DNA analysis. Cell Line Build-up is available, as is DNA Extract and Store. Enzyme analysis of PDC and its E2 component may be arranged directly with the Center for Inherited Disorders of Metabolism (CIDEM).
Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].
Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134
For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.
Turn Around Time: 4 weeks
List Price/CPT codes: $2659.16 / 83890, 83898x14, 83894x14, 83904x28, 83909x28, 83912