Pyridoxine-dependent seizures

[MIM 266 100]

(antiquitine deficiency)

Prevalence 1/500,000. Neurometabolic disease. Autosomal recessive transmission of mutations in the ALDH7A1 gene (5q31), resulting in a deficiency in antiquitine (or aminoadipic semi-aldehyde dehydrogenase) involved in the cerebral metabolism of lysine.

Typical form: very early onset (first days of life, sometimes antenatal crises) of convulsive polymorphic seizures resistant to treatment that can develop into status epilepticus or even death without treatment. Sometimes: vomiting, abdominal bloating, abnormal eye movements.

Non-typical forms: later onset (a few months) with recurrent status epilepticus  or crisis caused by fever.

Biology: high blood and CSF level of pipecolic acid .

Quick response (< 15 minutes) to the IV administration of 100 mg vitamin B6

Treatment: pharmacologic doses of vitamin B6 (15-30 mg/kg/d in 3 doses).

The crisis usually disappear if the treatment is maintained at the correct posology. Sometimes recurrence during intercurrent infections. In 75 to 80% cases, a moderate mental deficit (delayed skill acquisitions, for example) is present.


Anesthetic implications:

epileptic child


References :

-        Cano A, Valayannpoulos V.
Nouvelles pathologies,
in Maladies métaboliques héréditaires, editeurs B Chabrol et P de Lonlay, Doin 2011, p 165-7


Updated: April 2017