MNGIE: Largest single-center experience of a comprehensive multidisciplinary clinic and diverse therapeutic methodologies

Background: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare TYMP-related mitochondrial disorder leading to thymidine phosphorylase deficiency, progressive gastrointestinal dysmotility, neuropathy, cachexia, and leukoencephalopathy. Therapeutic options include hematopoietic stem cell transplantation (HSCT) and liver transplantation (LT). Despite reports from global centers, there has been no unified multidisciplinary pathway for managing these complex patients.
Purpose: To describe the world’s first comprehensive MNGIE Clinical Program established at King Faisal Specialist Hospital & Research Centre (KFSH&RC;) and present the largest known single-center experience utilizing diverse therapeutic methodologies
Method: The KFSH&RC; Comprehensive MNGIE Clinic integrates gastroenterology and small bowel rehabilitation, hematology and HSCT expertise, transplant surgery, neurology, genetic medicine, and nutritional rehabilitation. All patients undergo coordinated single-visit multidisciplinary assessment. Treatment pathways include HSCT, LT, nutritional and metabolic optimization, and mitochondrial-protective medical therapy
Result(s): KFSH&RC; follows 16 confirmed MNGIE patients—the largest single-center cohort worldwide. Four underwent HSCT (including a published successful case), four underwent LT with demonstrable biochemical improvement, three are in active transplant workup, and five patients died, largely secondary to late presentation and severe disease progression. The multidisciplinary model facilitated accurate phenotyping, improved risk stratification, and individualized therapeutic selection.
Conclusion(s): KFSH&RC; has developed the first dedicated multidisciplinary MNGIE clinic globally, providing structured pathways for evaluation and treatment of this ultra-rare disease. This represents the largest reported clinical experience and demonstrates the feasibility, clinical utility, and transformative value of coordinated multidisciplinary care for patients with MNGIE.