Metabolic diseases should always be considered when evaluating children presenting with
seizures. This is because many metabolic disorders are potentially treatable and seizure …

Seizures are often the first manifestation of central nervous system dysfunction and are
common in many inborn errors of metabolism, especially in neonates, infants, and children …

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders
of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any …

Inborn errors of metabolism have been considered as an infrequent cause of epilepsy.
Improvement in diagnostics has improved the detection of a metabolic basis of recurrent …

Seizures in neonates or young infants present a frequent diagnostic challenge. After
exclusion of acquired causes, disturbances of the internal homeostasis and brain …

Results: This review presents the basic principles underlying the recognition and treatment
of epilepsy caused by neurometabolic diseases. These disorders are divided (purely for the …

Seizures represent an important clinical manifestation of inborn errors of metabolism. The
presence of myoclonic seizures and very early onset are clues to a metabolic disorder …

Epileptic encephalopathies presenting in early life present a diagnostic and therapeutic
challenge. These disorders present with multiple seizure types that are treatment resistant …

Background Data on the pattern of epilepsy caused by metabolic disorders in the first 2
years of life are limited in developing countries. We aimed to identify the metabolic causes of …

Although inborn errors of metabolism do not represent the most common cause of seizures,
their early identification is of utmost importance, since many will require therapeutic …