MRI and In Vivo Spectroscopy of the Brain
Magnetic resonance is an essential tool to study brain diseases. Even though the diagnosis of inherited metabolic diseases is achieved by means of biochemical and genetic tools, brain magnetic resonance imaging (MRI) is useful for detecting brain complications (i.e., stroke-like episodes for propionic acidemia or MELAS) and for the follow-up of brain lesions load (i.e., white matter abnormalities in Fabry disease). In specific diseases, like Canavan disease and creatine deficiency syndromes (AGAT deficiency and creatine transporter defects), diagnosis can be made with in vivo proton magnetic resonance spectroscopy (MRS).
KeywordsMagnetic Resonance Spectroscopy Fabry Disease White Matter Abnormality Glutaric Aciduria Type Canavan Disease
- Barker P, Bizzi A, De Stefano N, Gullapalli R, Lin DDM (2010) MRS in cerebral metabolic disorders. In: Barker P, Bizzi A, De Stefano N, Gullapalli R, Lin DDM (eds) Clinical MR spectroscopy: techniques and applications. Cambridge University Press, Cambridge, UK, pp 180–211Google Scholar
- Stöckler S, Hanefeld F, Frahm J (1996) Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348:789–790Google Scholar
- van der Knaap M, Valk J (2005) Magnetic resonance of myelination and myelin disorders, 3rd edn. Springer, Berlin/HeidelbergGoogle Scholar