Treatable Intellectual Disability

Pyridoxine Dependent Epilepsy

DIAGNOSIS

Gene
ALDH7A1 (AR)

Diagnostic Test
Urine α-Aminoadipic Semialdehyde, Plasma Pipecolic Acids

Stacks Image 183

SIGNS & SYMPTOMS

Neurological
Epilepsy, white matter abnormalities (MRIscan), brain cysts / dysgenesis (MRIscan)

Non-Neurological
- - -

Stacks Image 184

THERAPY

Treatment
Pyridoxine

Level of Evidence
4

Clinical Practice
Standard of Care

Treatment Effect
Improves psychomotor development/IQ & seizure control



Stacks Image 185
Stacks Image 8406

Pyridoxine Dependent Epilepsy

Pyridoxine dependent seizures (PDS) is a condition characterized by early onset epilepsy that is unresponsive to any anticonvulsant therapy except pyridoxine (vitamin B6). The estimated incidence is 1:500.000 live births. The early onset form is the most common, with epileptic seizures occurring in the first days after birth (usually within the first 24 to 48 hours). (Source: Orphanet)

No information available from this source.

This disease is not (yet) listed on their website.