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Review
. 2025 Apr 1;7(1):23.
doi: 10.1186/s42494-025-00201-x.

The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with 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

The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy

Yuqing Shi et al. Acta Epileptol. .

Abstract

Epilepsy is a prevalent paroxysmal disorder in the field of neurology. Among the six etiologies of epilepsy, metabolic causes are relatively uncommon in clinical practice. Metabolic disorders encompass amino acid metabolism disorders, organic acid metabolism disorders, and other related conditions. Seizures resulting from nucleic acid/nucleotide metabolism disorders are even more infrequent. This review provides an overview of several studies on nucleic acid/nucleotide metabolism disorders associated with epilepsy, including adenosine succinate lyase deficiency, Lesch-Nyhan syndrome, and aminoimidazole carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase (ATIC) deficiency, among others. The potential pathogenesis, phenotypic features, diagnostic pathways, and therapeutic approaches of these diseases are discussed in this review. The goal is to help clinicians make an accurate diagnosis when encountering rare nucleic acid/nucleotide metabolism disorders with multi-system symptoms and manifestations of epilepsy.

Keywords: Epilepsy; Gene genetic variants; Nucleic acid/nucleotide metabolism.

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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 a 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
Schematic diagram of purine nucleotide anabolism. Red boxes in bold indicate substances that produce toxic effects on the nervous system. Abbreviations: A, Adenosine; ADSL, Adenylosuccinate lyase; AIR, Aminoimidazole ribotide; AICAR, Aminoimidazolecarboxamide ribose; AICAR TF, Amino imidazole carboxamide ribosidetransformylase; AMP, Adenosine monophosphate; ADP, Adenosine diphosphate; ATP, Adenosine triphosphate; ATIC, Amino imidazole carboxamide ribosidetransformylase/I inosine monophosphorus cyclohydrolase; CAIR, Carboxyl amino imidazoleribotide; FAICAR, Formylaminoimidazole-carbamide ribose; FGAM, Formyl glycin amidine ribotide; FGAR, Formyl glycin amide ribotide; G, Guanine; GAR, Glycinamide ribotide; GMP, Guanine monophosphate; GDP, Guanine diphosphate; GTP, Guanine triphosphate; HGPRT, Hypoxanthine–guanine phosphoribosyl transferase; I, Inosine; IMP, Inosine monophosphate; IMP CH, Inosine mono phosphorus cyclohydrolase; PRPP, Phosphoribosyl pyrophosphate; PRA, Phosphoribosyl amine; SAICAR, Succinylaminoimidazolecarboxamide ribose; S-AMP, Adenylosuccinate; XMP, Xanthosine monophosphate
Fig. 2
Fig. 2
Schematic diagram of purine and pyrimidine nucleotide catabolism. Abbreviations: AMP, Adenosine monophosphate; AMPD, Adenosine monophosphate deaminase; ATP, Adenosine triphosphate; CTP, Cytidine triphosphate; DHP, Dihydropyrimidinase; DPD, Dihydropyrimidine dehydrogenase; GMP, Guanine monophosphate; GTP, Guanine triphosphate; IMP, Inosine monophosphate; TTP, Thymidine triphosphate; XMP, Xanthosine monophosphate; βUP, β-ureidopropionase
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References

    1. Watts RWE. Disorders of purine and pyrimidine metabolism. In: Oxford Textbook of Medicine. Oxford University Press; 2010. 10.1093/med/9780199204854.003.1204. Accessed 6 Dec 2024.
    1. Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, et al. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab. 2008;94(4):435–42. - DOI - PubMed
    1. Madeo A, Di Rocco M, Brassier A, Bahi-Buisson N, De Lonlay P, Ceballos-Picot I. Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. Mol Genet Metab. 2019;127(2):147–57. - DOI - PubMed
    1. van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, et al. beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004;13(22):2793–801. - DOI - PubMed
    1. Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet (London, England). 1984;2(8411):1058–61. - PubMed

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