We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Actual insights into treatable inborn errors of metabolism causing epilepsy.
- Authors
Mastrangelo, Mario
- Abstract
This review offers an update on a group of inborn errors of metabolism causing severe epilepsy with the onset in pediatric age (but also other neurological manifestations such as developmental delay or movement disorders) with available effective or potentially effective treatments. The main pathogenic and clinical features and general recommendations for the diagnostic and therapeutic workup of the following disorders are discussed: vitamin B6-dependent epilepsies, cerebral folate deficiency, congenital disorders of serine metabolism, biotinidase deficiency, inborn errors of creatine metabolism, molybdenum cofactor deficiency, and glucose transporter 1 deficiency. Available treatments are more effective on epileptic manifestations (with the possibility of complete seizure control) and motor symptoms, whereas the benefits on cognitive outcome are usually minor.
- Subjects
INBORN errors of metabolism diagnosis; DEFICIENCY diseases; SPASMS; SEIZURES (Medicine); FOLIC acid deficiency; SERINE metabolism; GLUCOSE transporter 1 deficiency syndrome; AGE factors in disease; CREATINE; EPILEPSY; INBORN errors of metabolism; MOLYBDENUM; MOVEMENT disorders; NEUROLOGICAL disorders; VITAMIN B6 deficiency; SYMPTOMS; SEVERITY of illness index; DISEASE complications; CHILDREN; THERAPEUTICS; PREVENTION
- Publication
Journal of Pediatric Neurosciences, 2018, Vol 13, Issue 1, p13
- ISSN
1817-1745
- Publication type
Article
- DOI
10.4103/JPN.JPN_160_16