title: Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.
abstract: Our previous imaging research performed as part of a Urea Cycle Rare Disorders Consortium (UCRDC) grant, has identified specific biomarkers of neurologic injury in ornithine transcarbamylase deficiency, OTCD. While characterization of mutations can be achieved in most cases, this information does not necessarily predict the severity of the underlying neurological syndrome. The biochemical consequences of any mutation may be modified additionally by a large number of factors, including contributions of other enzymes and transport systems that mediate flux through the urea cycle, diet and other environmental factors. These factors likely vary from one patient to another, and they give rise to heterogeneity of clinical severity. Affected cognitive domains include non-verbal learning, fine motor processing, reaction time, visual memory, attention, and executive function. Deficits in these capacities may be seen in symptomatic patients, as well as asymptomatic carriers with normal IQ and correlate with variances in brain structure and function in these patients. Using neuroimaging we can identify biomarkers that reflect the downstream impact of UCDs on cognition. This manuscript is a summary of the presentation from the 4th International Consortium on urea cycle disorders held in, Barcelona, Spain, September 2, 2014.
authors: Center for Functional and Molecular Imaging, Georgetown University, USA.
authors: Ileana
authors: I
authors: Pacheco-Colón
authors: Children's National Medical, USA; George Washington University, USA.
authors: Stanley
authors: S
authors: Fricke
authors: Center for Functional and Molecular Imaging, Georgetown University, USA.
authors: John
authors: J
authors: VanMeter
authors: Center for Functional and Molecular Imaging, Georgetown University, USA; Children's National Medical, USA; George Washington University, USA. Electronic address: agropman@childrensnational.org.
authors: Andrea L
authors: AL
authors: Gropman
mesh_terms: D001921:Brain / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D059906:Neuroimaging / Q000379:methods*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis; D015898:Tomography Scanners, X-Ray Computed; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis*
keywords: Ammonia; Diffusion tensor imaging; Glutamine; Magnetic resonance imaging; Magnetic resonance spectroscopy; Myoinositol