TY - JOUR
T1 - Ornithine transcarbamylase deficiency with persistent abnormality in cerebral glutamate metabolism in adults
AU - Gropman, Andrea L.
AU - Sailasuta, Napapon
AU - Harris, Kent C.
AU - Abulseoud, Osama
AU - Ross, Brian D.
PY - 2009/9
Y1 - 2009/9
N2 - Purpose: To determine cerebral glutamate turnover rate in partial-ornithine transcarbamylase deficiency (OTCD) patients by using carbon 13 (13C) 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 (1H) MR spectroscopy, and 13C 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 13C-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 ([1-13C]-glucose or [2-13C]-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). [2-13C]-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.
AB - Purpose: To determine cerebral glutamate turnover rate in partial-ornithine transcarbamylase deficiency (OTCD) patients by using carbon 13 (13C) 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 (1H) MR spectroscopy, and 13C 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 13C-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 ([1-13C]-glucose or [2-13C]-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). [2-13C]-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.
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U2 - 10.1148/radiol.2523081878
DO - 10.1148/radiol.2523081878
M3 - Article
C2 - 19567648
AN - SCOPUS:70349286129
SN - 0033-8419
VL - 252
SP - 833
EP - 841
JO - Radiology
JF - Radiology
IS - 3
ER -