Scientists used patient-derived cells to model pyridoxine-dependent epilepsy (PDE-ALDH7A1) and found that dialing down an upstream enzyme (AASS) eased several stress signals in the cells, pointing to a potential new therapy direction.

A mouse study tested whether inhibiting AASS (an enzyme upstream of ALDH7A1) can reduce multiple PDE-related metabolites in brain and other tissues, offering proof-of-principle for a new treatment strategy.

A case report from Indonesia highlights how difficult it can be to recognize and manage PDE when testing and specialist resources are limited, and it points toward practical needs that could shorten time-to-diagnosis.

A neonatal case report describes early seizures with relapse and an eventual genetic confirmation of PDE-ALDH7A1, underscoring how quickly the early window can be missed without targeted suspicion. PDE is classically described as seizures that do not respond well to typical anti-seizure medications but can respond dramatically to pharmacologic doses of pyridoxine (vitamin B6). The […]

A genetics case report describes a child with long-standing pyridoxine-dependent seizures but no diagnosis on standard exome testing, later showing complex structural changes on deeper genome analysis.

A commentary highlights antisense oligonucleotides (AONs) targeting AASS, aiming to reduce the buildup of toxic lysine-pathway metabolites that drive pyridoxine-dependent epilepsy (PDE-ALDH7A1).

A small case series reports three neonatal epilepsy cases linked to vitamin B6 metabolism genes, reinforcing that early recognition and the right confirmatory testing can change outcomes. Pyridoxine-dependent epilepsy (PDE) is rare, but it is one of the most important “don’t-miss” causes of neonatal seizures because treatment can be effective. This report adds three more […]

A report of PDE-ALDH7A1 shows how early metabolic lab abnormalities can mimic other disorders, and how targeted biomarkers can quickly point back to a treatable B6-pathway epilepsy.

A review explains two lysine-breakdown routes in the body and argues that reducing flux through the saccharopine pathway could be therapeutic for PDE-ALDH7A1 and related disorders.