Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Pyridoxal 5'-phosphate-dependent epilepsy alone.
Find your community on the free RareGuru App.Pyridoxal 5'-phosphate-dependent epilepsy is a rare genetic metabolic disorder. Babies born with this disorder are not able to make enough Vitamin B6 and this causes the baby to start having seizures soon after they are born (also called early onset or neonatal onset seizures). The normal drugs to treat seizures (anti- seizure medications or anti- convulsants) do not work for these babies, however seizures can be controlled by pyridoxal 5'-phosphate (the active form of Vitamin B6). Published studies in 2015 have shown that some babies with pyridoxal 5'-phosphate-dependent epilepsy also respond well to pyridoxene (a different form of Vitamin B6).
Pyridoxal 5'-phosphate-dependent epilepsy is caused by changes or mutations in the _PNPO _gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by early onset of seizures which are not controlled by normal anti-seizure medications. Genetic testing is used to confirm the diagnosis. The disorder is fatal without treatment. Early treatment is important to decrease the chance of long term developmental delays. Some babies with early treatment have developed normally without any intellectual disabilities. There are less than 50 known cases of pyridoxal 5'-phosphate-dependent epilepsy as of 2015.
Source: GARD Last updated on 05-01-20
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:
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
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.