Stergachis Andrew B, Krier Joel B, Merugumala Sai K, Berry Gerard T, Lin Alexander P
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Mol Genet Metab Rep. 2021 Mar 13;27:100742. doi: 10.1016/j.ymgmr.2021.100742. eCollection 2021 Jun.
Adult-onset non-cirrhotic hyperammonemia (NCH) is a rare, but often fatal condition that can result in both reversible and irreversible neurological defects. Here we present five cases of adult-onset non-cirrhotic hyperammonemia wherein brain magnetic resonance spectroscopy (MRS) scans for cerebral glutamine (Gln) and myo-inositol (mI) levels helped guide clinical management. Specifically, we demonstrate that when combined with traditional brain magnetic resonance imaging (MRI) scans, cerebral Gln and mI MRS can help disentangle the reversible from irreversible neurological defects associated with hyperammonemic crisis. Specifically, we demonstrate that whereas an elevated brain MRS Gln level is associated with reversible neurological defects, markedly low mI levels are associated with a risk for irreversible neurological defects such as central pontine myelinolysis. Overall, our findings indicate the utility of brain MRS in guiding clinical care and prognosis in patients with adult-onset non-cirrhotic hyperammonemia.
成人起病的非肝硬化性高氨血症（NCH）是一种罕见但往往致命的疾病，可导致可逆和不可逆的神经缺陷。在此，我们报告5例成人起病的非肝硬化性高氨血症病例，其中脑部磁共振波谱（MRS）扫描检测脑谷氨酰胺（Gln）和肌醇（mI）水平有助于指导临床管理。具体而言，我们证明，当与传统的脑磁共振成像（MRI）扫描相结合时，脑Gln和mI MRS有助于区分与高氨血症危象相关的可逆和不可逆神经缺陷。具体而言，我们证明，虽然脑MRS Gln水平升高与可逆性神经缺陷相关，但mI水平显著降低与诸如中枢性桥脑髓鞘溶解等不可逆神经缺陷的风险相关。总体而言，我们的研究结果表明脑MRS在指导成人起病的非肝硬化性高氨血症患者的临床护理和预后方面具有实用性。
