Doctors in Indonesia discovered a very rare genetic condition in an 11-year-old boy that was causing severe seizures that didn’t respond to normal treatments. The condition, called ADK deficiency, affects how the body processes certain chemicals in the brain. What made this case unusual is that the boy didn’t show the typical warning signs doctors usually look for. By identifying the genetic problem through DNA testing and treating him with special medications and a restricted diet, doctors were able to reduce his seizures. This case is important because it shows that ADK deficiency might be missed in other patients, and doctors should consider testing for it when children have seizures that won’t go away.

The Quick Take

  • What they studied: A single case of a young boy with severe, hard-to-treat seizures caused by a rare genetic condition affecting brain chemistry
  • Who participated: One 11-year-old boy from Indonesia with a genetic mutation in both copies of his ADK gene (inherited from both parents who each carried one copy)
  • Key finding: DNA testing revealed ADK deficiency as the cause of the boy’s seizures, even though he didn’t have the typical high methionine levels that doctors usually expect to see with this condition
  • What it means for you: If you or a family member has seizures that don’t respond to standard treatments, doctors should consider testing for rare genetic conditions like ADK deficiency. This case suggests the condition may be more common than currently recognized but is being missed because it doesn’t always show expected warning signs.

The Research Details

This is a case report, which means doctors documented the medical history and treatment of one specific patient in detail. The doctors evaluated an 11-year-old boy who came to the hospital with severe seizures that continued despite being on multiple anti-seizure medications. They performed genetic testing called whole exome sequencing (WES), which reads through a person’s entire genetic code to find mutations. When they found a mutation in the ADK gene, they confirmed it using another test called Sanger sequencing to make sure the finding was accurate. They also tested the parents’ DNA to understand how the mutation was inherited.

The doctors reviewed all the boy’s medical records, including his developmental history, brain imaging results, and response to different treatments. They also searched through medical literature to find other cases of ADK deficiency worldwide and compared how this boy’s presentation was similar to or different from previously reported cases.

This approach is valuable for rare diseases because it allows doctors to document unusual presentations and help other physicians recognize similar cases in their own patients.

Case reports are especially important for identifying rare diseases that might otherwise go undiagnosed. By carefully documenting this boy’s symptoms, genetic findings, and treatment response, doctors can alert other physicians worldwide to watch for similar cases. This is particularly crucial for ADK deficiency because it appears to be underdiagnosed—meaning many patients with this condition may be misdiagnosed or not diagnosed at all.

This is a single case report, so it describes what happened with one patient rather than comparing many patients. The strength of this report is that it includes genetic confirmation through two different DNA testing methods, which makes the diagnosis reliable. The limitation is that one case cannot prove that a treatment works for everyone with this condition. The findings are most valuable for alerting doctors to consider this diagnosis in similar patients, rather than as proof of how to treat the condition.

What the Results Show

The 11-year-old boy presented with seizures that started early in life and continued despite being treated with multiple anti-seizure medications. He also had developmental delays, meaning he reached milestones like walking and talking later than typical children. He had some unusual facial features, low muscle tone (floppy muscles), and intellectual disability. When doctors performed genetic testing, they found two mutations in the ADK gene—one inherited from each parent.

What was unusual about this case is that the boy did not have high levels of methionine (an amino acid) in his blood. Doctors typically expect to see elevated methionine in ADK deficiency cases, so the absence of this finding made the diagnosis harder to recognize. This is why the case is described as an ‘atypical’ presentation—it didn’t follow the typical pattern doctors are trained to recognize.

After starting treatment with a methionine-restricted diet (eating less of foods containing methionine) combined with his anti-seizure medications, the boy’s seizures decreased in frequency and severity. However, his developmental progress remained limited, suggesting that while the seizures improved, the underlying brain development challenges persisted.

The boy’s dysmorphic features (unusual facial characteristics) and hypotonia (low muscle tone) are consistent with metabolic brain disorders but are not specific to ADK deficiency. His intellectual disability appeared to be related to the underlying genetic condition rather than just the seizures themselves. The case demonstrates that even with improved seizure control, children with this condition may continue to face developmental challenges, suggesting that early diagnosis and treatment might be important for potentially better long-term outcomes.

This is the first genetically confirmed case of ADK deficiency reported from Indonesia. The literature review in this paper identified only a handful of ADK deficiency cases worldwide, highlighting how extremely rare this condition is. This boy’s case is notable because most previously reported cases showed elevated methionine levels, making diagnosis more straightforward. The atypical presentation in this case suggests that ADK deficiency may be even more underdiagnosed than currently recognized, as cases without the typical methionine elevation might be missed entirely.

This is a single case report, so the findings apply specifically to this one patient and cannot be generalized to all people with ADK deficiency. The long-term outcomes are not yet known since the boy is still young. The treatment approach (combination of medications and diet) cannot be proven effective based on one case—it’s possible the seizure improvement was due to one treatment or a combination, but we cannot be certain. Additionally, the case does not provide information about what would happen without treatment or with different treatment approaches. Finally, because this is such a rare condition, it’s difficult to know how common different presentations might be.

The Bottom Line

Based on this single case, there is limited evidence to make broad recommendations. However, the case suggests that: (1) Children with hard-to-treat seizures should be considered for genetic testing, especially if they have developmental delays or unusual features; (2) Doctors should consider ADK deficiency even when methionine levels are normal; (3) A combination of anti-seizure medications and a methionine-restricted diet may help reduce seizures in patients with this condition. These recommendations should be discussed with a neurologist or genetic specialist, as they apply to a very rare condition.

This case is most relevant to: neurologists and pediatricians caring for children with hard-to-treat seizures; genetic counselors; families with a history of rare metabolic disorders; and researchers studying rare epilepsy causes. Families with children who have unexplained seizures despite multiple medications should discuss genetic testing with their doctors. This case is less relevant to people with common types of epilepsy that respond well to standard treatments.

In this case, seizure reduction was observed after starting treatment, though the exact timeline isn’t specified in detail. Developmental improvements, if they occur, would likely take months to years to become apparent. Long-term outcomes beyond the current follow-up period are unknown.

Want to Apply This Research?

  • For patients with confirmed or suspected ADK deficiency: Track seizure frequency (number of seizures per week), seizure duration (how long each seizure lasts), and dietary adherence (percentage of days following the methionine-restricted diet). Record any changes in alertness or developmental milestones.
  • Work with your healthcare team to: (1) Maintain a seizure diary noting date, time, duration, and any triggers; (2) Track adherence to the methionine-restricted diet by logging meals; (3) Monitor medication timing and doses; (4) Record any side effects from medications.
  • Set up weekly check-ins to review seizure patterns and dietary compliance. Monthly reviews with your healthcare provider should include seizure frequency trends, medication effectiveness, and any developmental changes. Quarterly genetic counseling sessions may help family members understand inheritance patterns and screening needs.

This case report describes one patient’s experience with a very rare genetic condition. It is not medical advice and should not be used to diagnose or treat any condition. If you or a family member has unexplained seizures or developmental delays, please consult with a qualified neurologist or pediatrician. Genetic testing and specialized treatment should only be pursued under professional medical supervision. The findings from a single case cannot be applied to all patients, and individual responses to treatment vary. Always discuss any concerns about seizures or rare genetic conditions with your healthcare provider.