Disorders in Amino Acid Metabolism Associated with Seizures

  • Mohamad Golshan-Tafti Department of Pediatrics, Islamic Azad University of Yazd, Yazd, Iran
  • Kamran Alijanpour General Practitioner, Babol University of Medical Sciences, Babol, Iran
  • Mohammad Bahrami Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  • Ali Masoudi General Practitioner, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  • Seyed Alireza Dastgheib Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  • Maryam Aghasipour Department of Cancer Biology, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA
  • Amirmasoud Shiri Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  • Amirmasoud Shiri Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  • Kazem Aghili Department of Radiology, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  • Hossein Neamatzadeh Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Keywords: Seizure; Amino acid deficiency; Neurological; Congenital

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.

Published
2024-05-20
Section
Articles