Clin Nutr Res.  2015 Apr;4(2):132-136. 10.7762/cnr.2015.4.2.132.

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

• Wang J
• Chen W
• Wang F
• Wu D
• Qian J
• Kang J
• Li H
• Ma E

• KMID: 2279359
• DOI: http://doi.org/10.7762/cnr.2015.4.2.132

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. He 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.

Keyword

Mitochondrial neurogastrointestinal encephalopathy syndrome; TYMP gene; Nutrition therapy; Complications

MeSH Terms

Fatty Liver
Humans
Hyperlipidemias
Nutrition Therapy*
Thymidine Phosphorylase
Thymidine Phosphorylase

Figure

• 

  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.

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