Pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner.^[1] This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected.

De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition.^[2] This means that in some cases, an affected individual may have only one parent who is a carrier for the condition.

Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known.^[2] Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional.

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.