A 25-year-old female presented with extreme malnourishment (BMI=9). Her nutrition has been suffering due to severe gastroparesis along with cyclic vomiting and food intolerance. Her symptoms began when she was approximately 19 years old and multiple gastrointestinal assessments have failed to result in a diagnosis. Analysis of urine organic acids revealed elevated levels of uracil and thymidine (figure 1), which were confirmed independently by dedicated purine/pyrimidine analysis. Molecular analysis revealed homozygous pathogenic mutations in the TYMP gene.
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|Adam Guenzel, Ph.D.
Fellow, Clinical Biochemical Genetics
|Silvia Tortorelli, M.D., Ph.D.
Consultant, Laboratory Genetics/Genomics
Assistant Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine