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Golshan-Tafti, M., Alijanpour, K., Bahrami, M., Masoudi, A., Dastgheib, S., Aghasipour, M., Shiri, A., Aghili, K., Neamatzadeh, H. (2024). Disorders in Amino Acid Metabolism Associated with Seizures. , 6(2), 98-106. doi: 10.18502/wjpn.v6i2.15491
Mohamad Golshan-Tafti; Kamran Alijanpour; Mohammad Bahrami; Ali Masoudi; Seyed Alireza Dastgheib; Maryam Aghasipour; Amirmasoud Shiri; Kazem Aghili; Hossein Neamatzadeh. "Disorders in Amino Acid Metabolism Associated with Seizures". , 6, 2, 2024, 98-106. doi: 10.18502/wjpn.v6i2.15491
Golshan-Tafti, M., Alijanpour, K., Bahrami, M., Masoudi, A., Dastgheib, S., Aghasipour, M., Shiri, A., Aghili, K., Neamatzadeh, H. (2024). 'Disorders in Amino Acid Metabolism Associated with Seizures', , 6(2), pp. 98-106. doi: 10.18502/wjpn.v6i2.15491
Golshan-Tafti, M., Alijanpour, K., Bahrami, M., Masoudi, A., Dastgheib, S., Aghasipour, M., Shiri, A., Aghili, K., Neamatzadeh, H. Disorders in Amino Acid Metabolism Associated with Seizures. , 2024; 6(2): 98-106. doi: 10.18502/wjpn.v6i2.15491

Disorders in Amino Acid Metabolism Associated with Seizures

World Journal of Peri and Neonatology
Volume 6, Issue 2, June 2024, Pages 98-106    PDF (324.76 K)
Document Type: Scientific Review
DOI: 10.18502/wjpn.v6i2.15491
Authors
Mohamad Golshan-Tafti1; Kamran Alijanpour* 2; Mohammad Bahrami3; Ali Masoudi4; Seyed Alireza Dastgheib5; Maryam Aghasipour6; Amirmasoud Shiri3; Kazem Aghili7; Hossein Neamatzadeh8
1Department of Pediatrics, Islamic Azad University of Yazd, Yazd, Iran
2General Practitioner, Babol University of Medical Sciences, Babol, Iran
3Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
4General Practitioner, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
6Department of Cancer Biology, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA
7Department of Radiology, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
8Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Seizures are a common presenting manifestation in children with amino acid metabolism disorders such as maple syrup urine disease (MSUD), nonketotic hyperglycinemia, sulfite oxidase deficiency, serine deficiency, and GABA-related disorders. In monoamine biosynthesis disorders, seizures are rare, but paroxysmal dystonia is often misdiagnosed as seizures. Metabolic changes, including amino acid turnover, have been noted during epileptogenesis and chronic epilepsy. Autophagy, a catabolic pathway crucial for maintaining tissue and organism homeostasis, is influenced by amino acids and plays a role in brain physiology and pathology, including epileptic disorders. Amino acid synthesis defects can cause neurological symptoms such as early-onset seizures, mental disability, and skin disorders. Besides neurological symptoms, amino acid metabolism disorders can impact other organ systems, resulting in various clinical manifestations. Early recognition and proper management of these disorders are vital for preventing long-term complications and enhancing patient outcomes. Ongoing research into the complex relationship between amino acid metabolism and neurological function may offer new insights into the pathogenesis of seizures and other neurological disorders.
Keywords
Seizure; Amino acid deficiency; Neurological; Congenital
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