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Published on: June 11, 2020
[Epilepsias de origen metabólico en el neonato]
1Servicio de Neuropediatría, Hospital Universitario Sant Joan de Deu, Barcelona, España.
Insights
Neurometabolic diseases cause inherited epilepsy, often resistant to treatment. Early diagnosis and cofactor-responsive metabolic treatments are crucial for managing seizures and underlying conditions.
Area of Science:
- Neurology
- Metabolic disorders
- Genetics
Background:
- Neurometabolic diseases are inherited disorders presenting with seizures and epilepsy.
- These conditions can manifest from the neonatal period through adolescence.
- Epileptic seizures are often refractory to standard antiepileptic drugs.
Purpose of the Study:
- To highlight the importance of recognizing inborn errors of metabolism responsive to cofactors.
- To emphasize the need for early identification and management of metabolic disorders causing seizures.
- To discuss the potential of metabolomic profiling for non-invasive diagnosis and improved therapeutic strategies.
Main Methods:
- Review of inherited metabolic disorders associated with epilepsy.
- Discussion of diagnostic challenges and therapeutic approaches.
- Exploration of emerging diagnostic technologies like metabolomic profiling.
Main Results:
- Epileptic phenomenology is not diagnostic for these conditions.
- Cofactor-responsive inborn errors of metabolism require specific knowledge.
- Acute decompensation necessitates nutritional, hydroelectrolytic, and respiratory support.
Conclusions:
- Early identification and treatment of metabolic disorders and electrolyte imbalances are vital, especially in neonates, to prevent severe damage.
- Future metabolomic profiling may offer non-invasive diagnostics and enhanced therapeutic options.
- Understanding these disorders is key to managing epilepsy and the underlying metabolic disease.
Abstract:
Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.
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