ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy
| Autor: | Raffaele Falsaperla, Giulia Lombardo, Tiziana Timpanaro, Antonio Zanghì, Flavia La Mendola, Daniela Caruso, Maria Teresa Garozzo, Catia Romano, Elena R. Praticò, Santiago Presti |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Arginine Nicotinamide business.industry Bioinformatics Pyridoxine medicine.disease Review article 03 medical and health sciences chemistry.chemical_compound Epilepsy 030104 developmental biology 0302 clinical medicine chemistry Pediatrics Perinatology and Child Health medicine Seizure control Neurology (clinical) business Pyridoxine-dependent epilepsy Gene 030217 neurology & neurosurgery medicine.drug |
| Popis: | Despite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an enzyme that catalyzes the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-α-aminoadipic semialdehyde/L-Δ1-piperideine 6-carboxylate. It is a highly treatable disorder, but nevertheless it is still not certain when to consider this diagnosis and how to test for it. It is possible to identify a classical form and an atypical one of PDE associated with more than 70 mutations of ALDH7A1 gene. The typical form is characterized by the onset of seizures within the first month of life and can be treated with pyridoxine in monotherapy, as they are not responsive to traditional anticonvulsant therapy. The atypical forms are equally pyridoxine-dependent, but are characterized by a later onset of seizures, sometimes up to the age of 3 years. Several brain abnormalities have been associated with ALDH7A1 mutations. Seizure control is achieved by the administration of high-dose pyridoxine, which must be started in the patient as soon as possible. However, it has been observed that pyridoxine therapy does not prevent developmental delay in most cases; in these cases, it can be recommended and useful to supplement arginine with pyridoxine therapy associated with a dietary restriction of lysine. |
| Databáze: | OpenAIRE |
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