The pyruvate carboxylase (PC) gene is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate. It is a key regulatory enzyme in gluconeogenesis, lipogenesis, and maintenance of the tricarboxylic acid cycle through anapleurosis. Human PC is a tetramer composed of identical subunits. Mutations in this gene (PC) have been associated with pyruvate carboxylase deficiency. PC deficiency has been clinically categorized into three major phenotypic subgroups, although there are other variants: Group A (“North American”, or moderate severity) has lactic acidemia and psychomotor retardation. Group B (“European”, or severe infantile form) has a more complex biochemical phenotype, frequently presenting with hypoglycemia, lactic acidosis, ketosis, hyperammonemia, and elevated citrulline, as well as an intracellular redox disturbance. Patients in group B have decreased survival compared to group A, and usually do not survive beyond 3 months of age. Group C may have the biochemical features of pyruvate carboxylase deficiency but have a relatively benign clinical course.
PC Prenatal Diagnosis is available for families who have had a PC mutation identified through Pyruvate Carboxylase (PC) Gene Sequence Analysis or Pyruvate Carboxylase (PC) Gene - Known Familial Mutation Analysis performed in this laboratory or by special arrangement in advance with the director.
Indications for Testing:
- Pregnancy known to be at risk for pyruvate carboxylase deficiency and known PC familial mutations.
OMIM #: 266150
Sample requirements:
- Amniotic fluid or Cultured Amniocytes
- Chorionic Villi or Cultured Chorionic villi
- Contact laboratory genetic counselors or molecular director for specific sample requirements in advance.
- Maternal blood sample is also required for Maternal Cell Contamination studies. Send 5 mL purple top (EDTA) along with prenatal sample.
Sample handling: Specimens being sent from outside facilities should be packaged according to standard medical safety practices. The specimen should never be frozen. A cold pack should be placed in the container during warm summer months. 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: 1-2 weeks
List price/CPT codes: $1195.68 / 83890, 83894 (x3), 83898 (x3), 83900, 83901 (x14), 83904 (x6), 83909 (x7), 83912
Price of testing includes Maternal Cell Contamination study.