About this Biochemistry, Genetics and Molecular Biology article

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation by James E Davison; Nigel P Davies; Martin Wilson; Yu Sun; Anupam Chakrapani; Patrick J McKiernan; John H Walter; P Gissen; Andrew C Peet is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

## Background Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period. Despite best current management, PA is associated with severe neurological sequelae, in particular movement disorders resulting from basal ganglia infarction, although the pathogenesis remains poorly understood. The role of liver transplantation remains controversial but may confer some neuro-protection. The present study utilises quantitative magnetic resonance spectroscopy (MRS) to investigate brain metabolite alterations in propionic acidaemia during metabolic stability and acute encephalopathic episodes. ## Methods Quantitative MRS was used to evaluate brain metabolites in eight children with neonatal onset propionic acidaemia, with six elective studies acquired during metabolic stability and five studies during acute encephalopathic episodes. MRS studies were acquired concurrently with clinically indicated MR imaging studies at 1.5 Tesla. LCModel software was used to provide metabolite quantification. Comparison was made with a dataset of MRS metabolite concentrations from a cohort of children with normal appearing MR imaging. ## Re

Author

James E Davison; Nigel P Davies; Martin Wilson; Yu Sun; Anupam Chakrapani; Patrick J McKiernan; John H Walter; P Gissen; Andrew C Peet

Publisher

BioMed Central; Springer (Biomed Central Ltd.); [London]: BioMed Central, 2006-; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 1750-1172)

Published

2011

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)