Doctors discovered a very rare genetic condition in a 15-year-old boy who had suffered from severe stomach pain attacks since he was one year old. The condition, called Cobalamin J disease, affects how the body uses vitamin B12. When the boy received vitamin B12 treatment, his painful attacks stopped. This case is important because it’s only the eighth person ever diagnosed with this disease, and it helps doctors understand the condition better. The story shows why doctors should think about vitamin B12 problems when patients have unexplained stomach pain that keeps coming back.

The Quick Take

  • What they studied: A teenage boy with repeated severe stomach pain attacks and a newly discovered rare genetic condition affecting how his body processes vitamin B12
  • Who participated: One 15-year-old male patient of Azerbaijani descent who experienced stomach pain starting at age one
  • Key finding: The patient had a rare genetic disorder (Cobalamin J disease) that caused his body to struggle with vitamin B12 processing. When given vitamin B12 treatment, his painful attacks stopped completely. The pain returned when treatment was stopped, confirming the connection.
  • What it means for you: If you or someone you know has unexplained, recurring stomach pain, doctors should consider checking vitamin B12 levels and metabolism. This is especially important if other tests haven’t found an explanation. However, this is an extremely rare condition, so it wouldn’t apply to most people with stomach problems.

The Research Details

This is a case report, which means doctors documented the medical history and treatment of one specific patient. The doctors carefully tracked the patient’s symptoms, test results, and response to treatment over many years—from age one to age 15. They also reviewed all the scientific literature about similar cases to understand how this patient’s experience compared to the seven other known cases worldwide.

The doctors performed genetic testing and found a specific mutation (a tiny error) in the patient’s DNA that causes the Cobalamin J disease. They documented how the patient’s symptoms appeared, what tests showed, and how the patient responded to vitamin B12 treatment over time.

Case reports are valuable for rare diseases because they help doctors recognize conditions they might otherwise miss. By documenting this patient’s journey in detail, other doctors around the world can learn what to look for. This case is particularly important because it’s the oldest patient diagnosed with this disease and shows the longest known history of the condition.

This is a single case report, which means it describes one patient’s experience rather than comparing many patients. While case reports are important for rare diseases, they cannot prove that something works for everyone. The strength of this report comes from careful documentation over 14 years and genetic confirmation of the diagnosis. The findings should be considered as helpful information for doctors to remember this rare condition, not as proof that applies to all patients.

What the Results Show

The patient experienced severe, recurring stomach pain attacks starting at age one. These attacks included weakness, pale skin, nausea, and vomiting. For seven years, doctors couldn’t figure out what was causing the pain, and the patient underwent many tests. At age eight, blood tests finally showed the patient had a specific type of anemia (megaloblastic anemia) caused by vitamin B12 deficiency.

Once the doctors started giving the patient vitamin B12 injections or supplements, something remarkable happened: the painful stomach attacks completely stopped. The patient felt better and could live normally. However, whenever the vitamin B12 treatment was stopped or the levels dropped, the pain attacks returned. This pattern repeated several times, clearly showing that vitamin B12 was the key to controlling the symptoms.

Genetic testing revealed the patient had a rare mutation in a gene called ABCD4, which is responsible for how cells process vitamin B12. This genetic change had never been documented before in this exact form. With ongoing vitamin B12 treatment, the patient remained healthy with no pain, no seizures, and normal development.

Interestingly, the patient did not show many of the other symptoms sometimes seen in similar vitamin B12 disorders. The patient had no unusual facial features, no skin darkening, no seizures, and normal brain development. This suggests that Cobalamin J disease may have a wider range of how it appears in different people than previously thought. The patient’s case is also notable because at age 15, this is the oldest person diagnosed with this condition, showing that the disease can be managed into the teenage years with proper treatment.

Before this case, only seven people worldwide had been diagnosed with Cobalamin J disease. This patient is the eighth documented case and the oldest. The genetic mutation found in this patient is new and has never been reported before. The patient’s relatively mild symptoms compared to some other cases (no seizures or developmental delays) suggests the disease may present differently depending on the specific genetic mutation and other factors. This case expands doctors’ understanding of how this rare disease can appear.

This is a report of just one patient, so the findings cannot be applied to all people with this condition. The patient’s experience may be unique. Additionally, the patient was diagnosed relatively late (at age eight) after years of unexplained symptoms, so earlier diagnosis might have prevented some of the suffering. The report is based on one family’s genetic background (Azerbaijani descent), so it’s unclear if the findings apply equally to other populations. Finally, because this disease is so rare, it’s difficult to do larger studies to confirm findings.

The Bottom Line

For patients with unexplained, recurring stomach pain: Ask your doctor to check your vitamin B12 levels and consider testing for rare vitamin B12 metabolism disorders, especially if other tests haven’t found an explanation. For patients diagnosed with Cobalamin J disease or similar conditions: Consistent vitamin B12 treatment appears to be effective at preventing symptoms and should be continued as prescribed. Confidence level: Moderate (based on one well-documented case, but supported by the clear cause-and-effect relationship observed).

This information is most important for: (1) Doctors who see patients with unexplained stomach pain, (2) Patients and families with recurring abdominal pain that hasn’t been diagnosed, (3) People with known vitamin B12 metabolism disorders. This should NOT worry people with occasional stomach pain or common digestive issues, as this is an extremely rare condition affecting fewer than 10 people worldwide.

In this patient’s case, vitamin B12 treatment stopped the severe pain attacks within weeks to months of starting treatment. However, the patient had suffered for seven years before diagnosis. Earlier recognition of the vitamin B12 connection could have prevented years of pain and suffering. Once properly treated, the patient remained symptom-free as long as treatment continued.

Want to Apply This Research?

  • Track abdominal pain episodes (date, time, severity on a scale of 1-10, associated symptoms like nausea or weakness) alongside vitamin B12 supplement or injection dates. Note any patterns between treatment timing and pain occurrence.
  • If diagnosed with a vitamin B12 metabolism disorder, set reminders to take vitamin B12 supplements or attend injection appointments on schedule. Users can log each dose and note any symptom changes to identify if pain returns when doses are missed.
  • Maintain a long-term symptom diary that tracks: (1) Frequency and severity of abdominal pain, (2) Associated symptoms (weakness, nausea, pale skin), (3) Vitamin B12 treatment dates and amounts, (4) Blood test results when available. Share this data with healthcare providers to monitor treatment effectiveness and adjust dosing as needed.

This case report describes one patient’s experience with an extremely rare genetic condition. It is not medical advice and should not be used to self-diagnose or self-treat. If you experience unexplained, recurring stomach pain or suspect a vitamin B12 deficiency, consult with a qualified healthcare provider for proper evaluation and testing. Vitamin B12 treatment should only be started under medical supervision. This information is for educational purposes and to help healthcare providers recognize rare conditions—it does not apply to most people with common digestive complaints.