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.
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