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<p>ADK deficiency, an extremely rare inherited metabolic disorder affecting methylation, is likely underdiagnosed as a cause of epilepsy. The limited number of reported cases and variability in presentation, particularly the absence of hypermethioninemia, pose diagnostic challenges. We report an 11-year-9-month-old Indonesian boy with refractory seizures, developmental delay, dysmorphic features, hypotonia, and intellectual disability. Despite normal methionine levels, WES revealed a variant in the&#xa0;<i>ADK</i>&#xa0;gene, confirmed by Sanger sequencing; both parents were heterozygous carriers. Management with multiple antiseizure medications and a methionine-restricted diet reduced seizures, though development remained limited. This case report highlights the first genetically confirmed ADK deficiency case from Indonesia. A concise literature review of reported cases worldwide is also provided to contextualize this atypical phenotype and discuss current diagnostic and therapeutic considerations.</p>

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ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review

  • 期刊论文

  • 发表日期：

    2026年1月16日

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  • Agung Triono,
  • Kristy Iskandar,
  • Neti Nurani,
  • Irma Sri Hidayati,
  • Andika Priamas Nugrahanto,
  • Khansadhia Hasmaradana Mooiindie,
  • Elisabeth Siti Herini

摘要

ADK deficiency, an extremely rare inherited metabolic disorder affecting methylation, is likely underdiagnosed as a cause of epilepsy. The limited number of reported cases and variability in presentation, particularly the absence of hypermethioninemia, pose diagnostic challenges. We report an 11-year-9-month-old Indonesian boy with refractory seizures, developmental delay, dysmorphic features, hypotonia, and intellectual disability. Despite normal methionine levels, WES revealed a variant in the ADK gene, confirmed by Sanger sequencing; both parents were heterozygous carriers. Management with multiple antiseizure medications and a methionine-restricted diet reduced seizures, though development remained limited. This case report highlights the first genetically confirmed ADK deficiency case from Indonesia. A concise literature review of reported cases worldwide is also provided to contextualize this atypical phenotype and discuss current diagnostic and therapeutic considerations.