Pyruvate dehydrogenase complex (PDC) deficiency results in a variety of phenotypes, with metabolic and neurological manifestations. The metabolic abnormalities include elevated blood lactate and pyruvate (with a normal ratio) and specifically increased plasma alanine. Neurological manifestations may include hypotonia, lethargy, seizures, developmental delay, neuropathy, and congenital or degenerative brain abnormalities.
The majority of PDC deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1). Mutations of other PDC genes are less common. The sex ratio of PDH E1-alpha deficiency appears to be approximately 1:1. Heterozygous females may manifest severe symptoms, although generally they are less severely affected than males with similar mutations, and in some cases may be asymptomatic.
PDHA1 Known Familial Mutation Analysis is available for family members when a mutation is identified through analysis performed in this laboratory using the Pyruvate dehydrogenase complex deficiency - PDHA1 Gene Sequence Analysis. PDHA1 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.
Indications for Testing
- Targeted mutation analysis for known familial mutations in PDHA1.
OMIM # 300502
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
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: 2 weeks
List price/CPT codes: $205.93 / 83890, 83898, 83894, 83904 (x2), 83909 (x2), 83912