Pyridoxal 5'-phosphate-dependent epilepsy

How is Pyridoxal 5'-phosphate-dependent epilepsy inherited?

Pyridoxal 5'-phosphate-dependent epilepsy is inherited in an autosomal recessive manner. This means for a baby to have this type of epilepsy, they must have a mutation in both copies of the PNPO gene in each cell. People with pyridoxal 5'-phosphate-dependent epilepsy inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier

When a person with pyridoxal 5'-phosphate-dependent epilepsy (so has two copies of the changed gene) has children, the risk their child will be affected by this type of epilepsy is dependent on whether their partner has mutations in one or both of their PNPO genes. If the partner does not have any mutation in the PNPO gene, then each child will be an unaffected carrier of the disorder. Therefore talking to a genetic counselor before becoming pregnant is advised.

Last updated on 05-01-20

Connect with other users with Pyridoxal 5'-phosphate-dependent epilepsy on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App