Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy [Molecular Diagnostics and Genetics]

CONCLUSIONS:
Sensitive detection of CDP-ribitol with LC-MS allows fast diagnosis of patients with severe and mild CRPPA myopathy. Ribose offers a readily testable dietary therapy for CRPPA myopathy, with possible applicability for patients with FKRP and FKTN myopathy. Evaluation of CDP-ribitol in blood is a promising tool for the evaluation and monitoring of dietary therapies for CRPPA myopathy in a patient-specific manner.

Source: Clinical Chemistry - September 29, 2019 Category: Chemistry Authors: van Tol, W., van Scherpenzeel, M., Alsady, M., Riemersma, M., Hermans, E., Kragt, E., Tasca, G., Kamsteeg, E.-J., Pennings, M., van Beusekom, E., Vermeulen, J. R., van Bokhoven, H., Voermans, N. C., Willemsen, M. A., Ashikov, A., Lefeber, D. J. Tags: Molecular Diagnostics and Genetics Source Type: research