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Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

From the Departments of Pediatrics (Drs. Takanashi, Kurihara, Tomita, Kanazawa, Yamamoto, and Kohno) and Radiology (Dr. Morita), Graduate School of Medicine, Chiba University; and Division of Medical Imaging (Drs. Takanashi, Tomita, Ikehira, and Tanada), National Institute of Radiological Sciences, Chiba, Japan.

Address correspondence and reprint requests to Dr. Jun-ichi Takanashi, Department of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba-Shi, Chiba 260-8670, Japan; e-mail: jtaka{at}med.m.chiba-u.ac.jp

Objective: To assess alterations in brain metabolites in patients with late-onset ornithine transcarbamylase deficiency (OTCD).

Methods: Six unrelated, asymptomatic Japanese late-onset OTCD patients were analyzed by proton MRS (¹HMRS) using a point-resolved spectroscopy technique (repetition and echo times, 5000 and 30 ms). Localized spectra for the centrum semiovale were acquired and absolute metabolite concentrations were calculated using an LCModel.

Results: Compared with age-matched controls, N-acetylaspartate and creatine concentrations were normal in all patients. The glutamine (Gln) plus glutamate concentration was increased in four patients, which progressed in proportion to the clinical stage. myo-inositol (mI) could not be detected in five symptomatic patients. A decreased choline (Cho) concentration was detected in two clinically severe patients. ¹HMRS after liver transplantation in one patient revealed the normalization of all metabolites.

Conclusion: These findings suggest progression of neurochemical events in OTCD, i.e., mI depletion and Gln accumulation followed by Cho depletion, which is reverse of that in hepatic encephalopathy, i.e., Cho depletion followed by mI depletion and Gln accumulation.

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