Pregledni rad
https://doi.org/10.26800/LV-146-supl1-24
Epilepsies and epileptic encephalopathies due to inborn errors of metabolism
Tamara Žigman
orcid.org/0000-0003-1184-8798
*
Danijela Petković Ramadža
Ivo Barić
* Dopisni autor.
Sažetak
Seizures can be a symptom of a large number of inherited metabolic disorders and metabolic epilepsies belong to different groups of inherited metabolic disorders. Epilepsy is a common symptom in energy metabolism disorders, cofactor disorders, some aminoacidopathies, glycosylation disorders, peroxisomal disorders, neurotransmitter disorders, and synaptic vesicle disorders. Most of them are multisystem diseases; epilepsy is rarely an isolated symptom. Early onset of epilepsy, refractory epilepsy, myoclonic seizures and some typical EEG patterns, such as burst suppression or hypsarrhythmia, indicate the possibility of metabolic disease. Metabolic workup should be started as soon as possible and genetic analyses should be done very early in the diagnostic algorithm. Treatable disorders should always be kept in mind first. Empiric treatment with pyridoxine, pyridoxal phosphate, and biotin should be started early, long enough, and at a proper dose before declared ineffective. The
goal is to clarify the etiology of the disease because it sometimes enables targeted treatment, shortens the uncertainties of parents and medical staff, and enables prognosis and genetic counselling and possibly prenatal diagnostics in the case of future pregnancies.
Ključne riječi
INBORN ERRORS OF METABOLISM; METABOLIC EPILEPSY; TREATABLE DISORDERS; BURST SUPRESSION
Hrčak ID:
315838
URI
Datum izdavanja:
11.4.2024.
Posjeta: 1.038 *