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|Title:||Magnetic resonance spectroscopy in adult-onset citrullinemia: Elevated glutamine levels in comatose patients|
|Source:||Wong, Y.-C., Au, W.L., Xu, M., Ye, J., Lim, C.C.T. (2007-07). Magnetic resonance spectroscopy in adult-onset citrullinemia: Elevated glutamine levels in comatose patients. Archives of Neurology 64 (7) : 1034-1037. ScholarBank@NUS Repository. https://doi.org/10.1001/archneur.64.7.1034|
|Abstract:||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 myoinositol 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. ©2007 American Medical Association. All rights reserved.|
|Source Title:||Archives of Neurology|
|Appears in Collections:||Staff Publications|
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