Disorders in Amino Acid Metabolism Associated with Seizures

Document Type : Scientific Review

Authors

1 Department of Pediatrics, Islamic Azad University of Yazd, Yazd, Iran

2 General Practitioner, Babol University of Medical Sciences, Babol, Iran

3 Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

4 General Practitioner, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

5 Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

6 Department of Cancer Biology, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA

7 Department of Radiology, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

8 Mother 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

Corresponding Author: Kamran Alijanpour

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World Journal of Peri and Neonatology
Volume 6, Issue 2
June 2024
Pages 98-106

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History

  • Receive Date: 02 June 2024
  • Accept Date: 02 June 2024

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