This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Congenital pyridoxine dependency

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Congenital pyridoxine dependency is a rare autosomal recessive condition characterised by reduced synthesis of GABA.

Presentation is with intractable seizures in the neonatal period.

The diagnosis is made on the basis of clinical response to administration of pyridoxine, which is needed throughout life.

Related pages

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page