Abstract
Abstract
Although there are many types of inborn errors of metabolism (IEMs) affecting the central nervous system, also referred to as neurometabolic disorders, individual cases are rare, and their diagnosis is often challenging. However, early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurological impairment or death. The clinical course of IEMs is very diverse, with some diseases progressing to acute encephalopathy following infection or fasting while others lead to subacute or slowly progressive encephalopathy. The diagnosis of IEMs relies on biochemical and genetic tests, but neuroimaging studies also provide important clues to the correct diagnosis and enable the conditions to be distinguished from other, more common causes of encephalopathy, such as hypoxia–ischemia. Proton magnetic resonance spectroscopy (1H-MRS) is a powerful, non-invasive method of assessing neurological abnormalities at the microscopic level and can measure in vivo brain metabolites. The present review discusses neuroimaging findings, including those of 1H-MRS, of IEMs focusing on intoxication disorders such as urea cycle disorders, aminoacidopathies, and organic acidopathies, which can result in acute life-threatening metabolic decompensation or crisis.
Publisher
Springer Science and Business Media LLC
Subject
Radiology, Nuclear Medicine and imaging
Reference82 articles.
1. Jeanmonod R, Asuka E, Jeanmonod D. Inborn Errors Of Metabolism. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): Stat Pearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459183/
2. Saudubray JM, Sedel F, Walter JH. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis. 2006;29:261–74.
3. Poretti A, Blaser SI, Lequin MH, Fatemi A, Meoded A, Northington FJ, et al. Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging. 2013;37:294–312.
4. Panigrahy A, Nelson MD Jr, Blüml S. Magnetic resonance spectroscopy in pediatric neuroradiology: clinical and research applications. Pediatr Radiol. 2010;40:3–30.
5. Aida N. 1H-MR Spectroscopy of the early developmental Brain, neonatal encephalopathies, and neurometabolic disorders. Magn Reson Med Sci. 2022;21:9–28.
Cited by
2 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献