1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations
AL Gropman, RR Seltzer, M Yudkoff, A Sawyer… - Molecular genetics and …, 2008 - Elsevier
We used 1H MRS to evaluate brain metabolic differences in sisters with partial ornithine
transcarbamylase deficiency (OTCD) who had discordant clinical symptoms and urea
synthetic capabilities to assess whether a brain biomarker of partial OTCD correlated with
urea synthetic ability and clinical severity. We performed single voxel 3.0 T 1H MRS in two
adult sisters with partial OTCD, one symptomatic and one asymptomatic, in a stable medical
state and compared it to one age matched adult control, as well as data collected on an …
transcarbamylase deficiency (OTCD) who had discordant clinical symptoms and urea
synthetic capabilities to assess whether a brain biomarker of partial OTCD correlated with
urea synthetic ability and clinical severity. We performed single voxel 3.0 T 1H MRS in two
adult sisters with partial OTCD, one symptomatic and one asymptomatic, in a stable medical
state and compared it to one age matched adult control, as well as data collected on an …