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Radiology. 2009 Sep;252(3):833-41. doi: 10.1148/radiol.2523081878. Epub 2009 Jun 30.

Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults.

Author information

1
Department of Neurology, Children's National Medical Center, Washington, DC, USA.

Abstract

PURPOSE:

To determine cerebral glutamate turnover rate in partial-ornithine transcarbamylase deficiency (OTCD) patients by using carbon 13 ((13)C) magnetic resonance (MR) spectroscopy.

MATERIALS AND METHODS:

The study was performed with approval of the institutional review board, in compliance with HIPAA regulations, and with written informed consent of the subjects. MR imaging, hydrogen 1 ((1)H) MR spectroscopy, and (13)C MR spectroscopy were performed at 1.5 T in 10 subjects, six patients with OTCD and four healthy control subjects, who were in stable condition. Each received intravenous (13)C-glucose (0.2 g/kg), C1 or C2 position, as a 15-minute bolus. Cerebral metabolites were determined with proton decoupling in a parieto-occipital region (n = 9) and without proton decoupling in a frontal region (n = 1) during 60-120 minutes.

RESULTS:

Uptake and removal of cerebral glucose ([1-(13)C]-glucose or [2-(13)C]-glucose) were comparable in healthy control subjects and subjects with OTCD (P = .1). Glucose C1 was metabolized to glutamate C4 and glucose C2 was metabolized to glutamate C5 at comparable rates, both of which were significantly reduced in OTCD (combined, P = .04). No significant differences in glutamine formation were found in subjects with OTCD (P = .1). [2-(13)C]-glucose and its metabolic products were observed in anterior cingulate gyrus without proton decoupling in one subject with OTCD.

CONCLUSION:

Treatments that improve cerebral glucose metabolism and glutamate neurotransmission may improve neurologic outcome in patients with OTCD, in whom prevention and treatment of hyperammonemic episodes appear to be insufficient.

PMID:
19567648
PMCID:
PMC2734894
DOI:
10.1148/radiol.2523081878
[Indexed for MEDLINE]
Free PMC Article

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