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Review
. 2024 Aug 20;6(1):24.
doi: 10.1186/s42494-024-00167-2.

Disorders of organic acid metabolism and epilepsy

Yuqing Shi  1   2 , Zihan Wei  2 , Yan Feng  1   2 , Yajing Gan  2 , Guoyan Li  1   2 , Yanchun Deng  3   4
Affiliations
Review

Disorders of organic acid metabolism and epilepsy

Yuqing Shi et al. Acta Epileptol. .

Abstract

Epilepsy can be caused by a variety of causes, such as inborn errors of metabolism, organic acid disorders are the most significant type of metabolic disorders that cause seizures. The clinical manifestations of these diseases are generally nonspecific, and the types of seizures are different. Screening for multisystem clinical symptoms and identifying the underlying etiology are crucial for early treatment of epileptic seizures. This article provides a comprehensive summary of the pathogenesis, clinical features, diagnosis and treatment of epilepsy associated with organic acid metabolism disorders. Furthermore, relevant literature has also been reviewed to assist clinicians in the diagnosis of cases characterized by the coexistence of multisystemic symptoms and epileptic manifestations.

Keywords: Diagnosis, Treatment; Epilepsy; Gene genetic variants; Organic acids.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: Author Yanchun Deng is the member of the Editorial Board for Acta Epileptologica, who was not involved in the journal’s review of, or decisions related to this manuscript.

Figures

Fig. 1
Fig. 1
a Metabolic map of methylmalonic acidemia, propionic acidemia, and malonyl-CoA decarboxylase deficiency; b Metabolic map of L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria -1
Fig. 2
Fig. 2
Metabolic map of fumarate hydratase deficiency Abbreviations: ADSL Adenylosuccinate lyase; AICAR Aminoimidazolecarboxamide ribose; SAICAR Succinylaminoimidazolecarboxamide ribose
See this image and copyright information in PMC

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