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: EC:3.5.1.12 (
biotinidase
)
392
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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 B
6
-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.
...
PMID:Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy. 2989 66
