Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

International Journal of Molecular Sciences

Asuri N. Prasad¹  Suvasini Sharma² 

[1] Department of Pediatrics and Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Children’s Hospital of Western Ontario and London Health Sciences Centre, London, ON N6A5W9, Canada;Department of Pediatrics, Lady Hardinge Medical College, New Delhi 110001, India;

关键词: inborn errors of metabolism;    epilepsy;    seizures;    pyridoxine dependent epilepsy;    glucose transporter defect;    genetic;    biochemical testing;   

DOI  :  10.3390/ijms18071384

来源: DOAJ

【 摘 要 】

Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term “metabolic epilepsy” can be used to include these conditions. These epilepsies can present across the life span, and share features of refractoriness to anti-epileptic drugs, and are often associated with co-morbid developmental delay/regression, intellectual, and behavioral impairments. Some of these disorders are amenable to specific treatment interventions; hence timely and appropriate diagnosis is critical to improve outcomes. In this review, we discuss those disorders in which epilepsy is a dominant feature and present an approach to the clinical recognition, diagnosis, and management of these disorders, with a greater focus on primarily treatable conditions. Finally, we propose a tiered approach that will permit a clinician to systematically investigate, identify, and treat these rare disorders.

【 授权许可】

Unknown