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Elevated Glutamine Levels in Comatose Patients

Yee-Choon Wong, MBBS; Wing Lok Au, MBBS; Maosheng Xu, PhD; Jieru Ye, BSc; C. C. Tchoyoson Lim, MBBS

Arch Neurol. 2007;64(7):1034-1037.

Background  Adult-onset type II citrullinemia is an inborn error of urea cycle metabolism that can lead to hyperammonemic encephalopathy and coma. However, type II citrullinemia is rare outside Japan, and diagnosis and treatment can be delayed. Magnetic resonance spectroscopy may be a useful adjunct to magnetic resonance imaging, and has been applied to noninvasively study chemical metabolism in the human brain.

Patients  We describe 2 patients with type II citrullinemia who presented with episodic postprandial somnolence and coma. Diffusion-weighted magnetic resonance imaging showed bilaterally symmetrical signal abnormalities of the insular cortex and cingulate gyrus. On magnetic resonance spectroscopy, glutamine and glutamate levels were elevated, and choline and myo-inositol levels were decreased. The diagnosis of citrullinemia was confirmed based on elevated plasma ammonia and citrulline levels.

Conclusion  Characteristic features found at the time of magnetic resonance imaging and magnetic resonance spectroscopy may be helpful for early diagnosis of type II citrullinemia in adult patients who present with hyperammonemic encephalopathy and coma.

Author Affiliations: Departments of Neurology (Drs Wong and Au) and Neuroradiology (Drs Xu and Lim and Ms Ye), National Neuroscience Institute, Singapore; Department of Radiology, Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, China (Dr Xu); and Department of Diagnostic Radiology, Yong Loo Lin School of Medicine, National University of Singapore (Dr Lim).

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