Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP Gene

Abstract

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is characterized by significant gastrointestinal dysmotility. Early and long-term nutritional therapy is highly recommended. We report a case of MNGIE in a patient who was undergoing long-term nutrition therapy. The patient was diagnosed with a serious symptom of fatty liver and hyperlipidemia complications, along with homozygous mutation of the thymidine phosphorylase (TYMP) gene (c.217G > A). To our knowledge, this is the first report of such a case. Herein, we describe preventive measures for the aforementioned complications and mitochondrial disease-specific nutritional therapy.

Keywords: Complications; Mitochondrial neurogastrointestinal encephalopathy syndrome; Nutrition therapy; TYMP gene.

Figure 1. Abdominal and pelvic computed tomography scans. (A): The angle between the abdominal aorta and superior mesenteric artery (short white arrow) was significantly smaller. (A) and (B): The position of the stomach was significantly lower. The stomach and intestines were significantly dilated with large quantities of liquid. (C): The gastrointestinal wall was uniformly thick with homogeneous enhancement (long white arrows). (D): The density of the whole liver was significantly reduced, and the volume was elevated.

Figure 2. Cranial MRI showing cerebral white matter changes. (A): A T1-weighted image showing bilateral cerebral white matter fibers (long black arrows) and the bilateral thalamus (short black arrows) with diffuse, symmetrical, low-signal intensity. (B) and (C): T2-weighted (B) and fluid-attenuated inversion recovery images (C) showing bilateral cerebral white matter fibers(long black arrows) and the bilateral thalamus(short black arrows) with diffuse, symmetrical, high-signal intensity. (D): No significant diffusion is observed on the diffusion-weighted.