ReviewNeurogenetics2026
ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
Review in Neurogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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