Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0036572 (
seizures
)
80,221
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Introduction
: Vitamin B6 dependent epilepsies are a group of treatable diseases (
ALDH7A1
deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinaemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects) responding to pyridoxine or pyridoxal-5
I
-phosphate.
Areas covered
: A critical review was conducted on the therapeutic management of all the reported patients with genetically confirmed diagnoses of diseases affecting vitamin B6 metabolism and presenting with pyridoxine or pyridoxal-5
I
-phosphate dependent-
seizures
. Data about safety and efficacy were analyzed as well as the management of supplementation with pyridoxine or pyridoxal-5
I
-phosphate both in the acute phases and in the maintenance therapies. The authors also analyzed alternative therapeutic strategies for
ALDH7A1
deficiency (lysine-restricted diet, arginine supplementation, oligonucleotide antisense therapy, upstream inhibition of
aminoadipic semialdehyde synthase
).
Expert opinion
: The administration of pyridoxine or pyridoxal-5
I
-phosphate should be considered in all intractable
seizures
also beyond the first year of life. Lysine restricted diet and arginine supplementation should be introduced in all the confirmed
ALDH7A1
deficient patients. Pre or post-natal supplementation with pyridoxine should be given in familial cases until an eventual molecular genetic disconfirmation. Minor data about alternative therapies are available for other disorders of vitamin B6 metabolism.
...
PMID:Update on the treatment of vitamin B6 dependent epilepsies. 3134 Jun 80
