Citrin deficiency, a rare genetic disorder, caused an 11-year-old boy to develop dangerously high triglyceride levels (nearly 30 mmol/L) that led to repeated, severe pancreas inflammation. According to Gram Research analysis of this case report, the condition was managed with a special high-protein, high-fat, low-carbohydrate diet, medium-chain triglyceride supplements, and blood-filtering treatments. Doctors should consider citrin deficiency in children with unexplained recurrent pancreatitis and very high blood fats, even when standard metabolic markers appear normal.
A Gram Research analysis of a case report describes an 11-year-old boy with citrin deficiency, a rare genetic disorder affecting how the body processes fats and carbohydrates. The condition caused dangerously high triglyceride levels (a type of fat in the blood) that led to repeated, painful inflammation of the pancreas. Doctors discovered the problem through genetic testing and managed it with special diets and blood treatments. This case highlights that doctors should consider citrin deficiency when children have unexplained pancreatitis combined with very high triglycerides, especially if they avoid carbohydrates and prefer unusual foods.
Key Statistics
A 2026 case report published in Frontiers in Pediatrics documented an 11-year-old boy with citrin deficiency who presented with severe hypertriglyceridemia at 28.96 mmol/L, approximately 15 times higher than normal levels, causing recurrent acute pancreatitis.
Genetic testing in the case identified compound heterozygous mutations in the SLC25A13 gene (exon 9: c.852_855delTATG; intron 6: c.615+5G > A), confirming citrin deficiency as the underlying cause of the boy’s severe high triglycerides and pancreas inflammation.
Management with plasma exchange, a high-protein/high-fat/low-carbohydrate diet, and medium-chain triglyceride supplementation led to clinical improvement in the case, though poor dietary adherence during follow-up resulted in two readmissions for recurrent pancreatitis.
The case report highlights that citrin deficiency should be considered in children with recurrent acute pancreatitis and severe hypertriglyceridemia, even in the absence of elevated ammonia or citrulline levels, especially when accompanied by carbohydrate aversion.
The Quick Take
- What they studied: How a rare genetic disorder called citrin deficiency caused a child to develop life-threatening high fat levels in the blood and repeated pancreas inflammation
- Who participated: One 11-year-old boy from China with the genetic disorder who experienced multiple episodes of severe pancreas inflammation
- Key finding: The boy had extremely high triglyceride levels (nearly 29 mmol/L, which is dangerously high) caused by citrin deficiency, and managing his diet and using blood treatments helped control the condition
- What it means for you: If a child has repeated pancreas problems with very high blood fats, doctors should test for citrin deficiency, especially if the child avoids carbohydrates. Early diagnosis and proper diet management can prevent serious complications.
The Research Details
This is a case report, which means doctors documented one patient’s medical story in detail. The 11-year-old boy came to the hospital with severe abdominal pain, and doctors ran blood tests, imaging scans, and genetic tests to figure out what was wrong. The genetic testing was crucial—it identified two different mutations in the SLC25A13 gene, which is responsible for making a protein that helps the body process certain nutrients. The doctors then tracked how the boy responded to different treatments over time.
The case report method is like a detailed medical detective story. Instead of studying hundreds of patients, doctors carefully document one person’s symptoms, test results, and treatment response. This helps other doctors recognize the same condition in their own patients. In this case, the detailed documentation was especially important because citrin deficiency is so rare that many doctors might never see it.
Case reports are valuable for identifying rare diseases that might otherwise be missed. Because citrin deficiency is uncommon, many doctors have never encountered it. By publishing this detailed account, the medical team helps other healthcare providers recognize the warning signs—like a child with repeated pancreas inflammation and extremely high blood fats—and test for this condition. This can lead to earlier diagnosis and better treatment outcomes for other children with the same disorder.
This case report comes from a peer-reviewed medical journal, meaning other experts reviewed it before publication. The doctors provided detailed test results, imaging findings, and genetic information, which strengthens the reliability of their observations. However, because it describes only one patient, the findings cannot be generalized to all children with citrin deficiency. Different patients may have different experiences. The case is most valuable as a teaching tool to help doctors recognize the condition, not as proof that all citrin deficiency cases will follow the same pattern.
What the Results Show
The boy presented with severe abdominal pain and was found to have dangerously high triglyceride levels—nearly 30 mmol/L, which is about 15 times higher than normal. Imaging scans showed his pancreas was swollen and inflamed. Genetic testing revealed he had two different mutations in the SLC25A13 gene, confirming citrin deficiency.
When doctors treated him with plasma exchange (a procedure that filters harmful substances from the blood), a special high-protein, high-fat, low-carbohydrate diet, and medium-chain triglyceride supplements, his condition improved significantly. His triglyceride levels came down, his pancreas inflammation decreased, and his abdominal pain resolved.
However, when the boy didn’t follow the special diet carefully during follow-up visits, he had two more episodes of pancreatitis requiring hospitalization. This showed that strict dietary management is essential for controlling this condition. Interestingly, the boy’s ammonia and citrulline levels (other markers doctors typically check in metabolic disorders) remained normal, which made the diagnosis trickier initially.
The boy was smaller than average for his age (at the 10th percentile for height and weight), which is common in children with citrin deficiency. He had an unusual food preference—he strongly preferred soy products and avoided carbohydrates, which is actually a clue that helped doctors suspect this condition. The case demonstrates that citrin deficiency can present differently than textbook descriptions, particularly in the post-NICCD phase (a later stage of the disease). The fact that standard metabolic markers were normal highlights how important genetic testing is when a child has unexplained pancreatitis with very high triglycerides.
Citrin deficiency is known to cause metabolic problems, but it’s usually identified earlier in infancy or early childhood. This case is notable because the boy presented later, during childhood, with pancreatitis as the main problem. Previous research has shown that citrin deficiency can cause high triglycerides, but this case emphasizes that recurrent pancreatitis (repeated inflammation) is a serious complication doctors should watch for. The case also adds to medical knowledge by showing that normal ammonia levels don’t rule out citrin deficiency, which may help doctors avoid missing diagnoses in the future.
This is a single case report, so the findings apply specifically to this one boy and may not represent how citrin deficiency affects all children. Different patients might respond differently to treatment or have different symptoms. The case doesn’t provide long-term follow-up data beyond the readmissions, so we don’t know the boy’s outcome years later. Additionally, the boy’s poor dietary adherence during follow-up made it harder to determine whether the treatment would have worked long-term with perfect compliance. Finally, because citrin deficiency is rare and this case involves a Chinese child, the findings may not apply equally to children of other ethnic backgrounds.
The Bottom Line
Children with repeated pancreatitis and very high triglyceride levels should be tested for citrin deficiency, especially if they have unusual food preferences or avoid carbohydrates. If diagnosed, a high-protein, high-fat, low-carbohydrate diet with medium-chain triglyceride supplements appears effective. Blood-filtering treatments (plasma exchange) may be needed during acute episodes. These recommendations are based on one case, so families should work closely with metabolic specialists to develop individualized treatment plans.
Parents and pediatricians should care about this case if a child has unexplained recurrent pancreatitis with very high blood fats. Metabolic specialists and genetic counselors should be aware of citrin deficiency as a possible diagnosis. Children with a family history of metabolic disorders or those from Asian backgrounds (where the condition may be more common) should be considered for testing if they develop pancreatitis. However, this case doesn’t apply to children with normal triglyceride levels or single episodes of pancreatitis from known causes.
In this case, the boy’s symptoms improved within days to weeks after starting treatment with plasma exchange and dietary changes. However, maintaining improvement required strict adherence to the special diet long-term. Families should expect that managing citrin deficiency is a lifelong commitment requiring careful dietary control and regular medical monitoring.
Frequently Asked Questions
What is citrin deficiency and what causes it?
Citrin deficiency is a rare genetic disorder caused by mutations in the SLC25A13 gene. The gene normally makes a protein that helps cells process nutrients. Without working copies of this gene, the body struggles to handle fats and carbohydrates properly, leading to dangerously high triglyceride levels and other metabolic problems.
Why does citrin deficiency cause pancreatitis?
When triglyceride levels become extremely high (as seen in this case at nearly 30 mmol/L), they can trigger inflammation of the pancreas, the organ that produces digestive enzymes and insulin. The repeated inflammation causes severe abdominal pain and can damage the pancreas over time.
How is citrin deficiency diagnosed?
Diagnosis requires genetic testing to identify mutations in the SLC25A13 gene. Doctors typically suspect the condition when a child has unexplained recurrent pancreatitis with very high triglycerides, unusual food preferences (like carbohydrate aversion), or growth problems. Blood tests and imaging scans support the diagnosis.
Can citrin deficiency be cured or only managed?
Currently, citrin deficiency cannot be cured, but it can be managed effectively with a special diet high in protein and fat while low in carbohydrates, plus medium-chain triglyceride supplements. Strict dietary adherence is essential to prevent pancreatitis episodes and other complications.
What should parents do if their child has recurrent pancreatitis?
Parents should work with their pediatrician to investigate the cause. If standard tests don’t reveal an obvious cause, they should ask about genetic testing for citrin deficiency, especially if the child has very high triglycerides, avoids carbohydrates, or has growth problems. Early diagnosis enables proper management.
Want to Apply This Research?
- Track daily dietary intake (protein, fat, and carbohydrate percentages), weekly triglyceride levels if monitored at home, and any abdominal pain or pancreatitis symptoms. Record adherence to the prescribed high-protein, high-fat, low-carbohydrate diet with specific meals and MCT supplement doses.
- Users managing citrin deficiency should use the app to log meals before eating to ensure they match the prescribed macronutrient ratios, set reminders for MCT supplement doses, and track any symptoms that might indicate dietary non-compliance or disease progression.
- Establish a weekly review of dietary compliance and symptom patterns. Set monthly goals for maintaining diet adherence. Track trends in symptoms over 3-month periods to identify whether dietary lapses correlate with symptom flare-ups. Share reports with healthcare providers during regular check-ups.
This article describes a single case report of citrin deficiency and should not be used for self-diagnosis or self-treatment. Citrin deficiency is a rare condition that requires diagnosis by qualified healthcare professionals through genetic testing and specialized metabolic evaluation. If your child experiences recurrent abdominal pain, pancreatitis, or has very high triglyceride levels, consult with a pediatrician or metabolic specialist immediately. The dietary and treatment recommendations described in this case are specific to this patient and may not apply to others. Always work with your healthcare team to develop an individualized treatment plan. This article is for educational purposes only and does not replace professional medical advice.
This research translation is published by Gram Research, the science division of Gram, an AI-powered nutrition tracking app.