Cape Town - 2026 ISMRM-ISMRT Annual Meeting and Exhibition
9 May 2026 – 14 May 2026 · Cape Town, South Africa
601-03-002 ISMRM Abstract

Methylmalonic acid: a new target for Hadamard-edited MRS

Primary: Acquisition & Reconstruction - Spectroscopy and spectroscopic imaging
Secondary: Neuro - Other Neurodegeneration
601-03-002 · Spectroscopy and Spectroscopic Imaging · Thursday, 14 May, 4:00 PM–5:50 PM · Hall 1A
Keywords: MRS Lactate Edited magnetic resonance spectroscopy Methylmalonic Acid
Accepted
Yulu Song1, Tao Gong2, Zahra Shams1, xiaoya sun2, Christopher W Davies-Jenkins1, Shuyuan Wang3, Gizeaddis Simegn1, Saipavitra Murali-Manohar1, Abdelrahman Gad1, Georg Oeltzschner1, guangbin wang2, Richard AE Edden 1,4
1The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, United States of America
2Departments of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250022, China
3Department of Mechanical Engineering, Johns Hopkins University, Baltimore, United States of America
4F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, United States of America
Presenting Author: Richard AE Edden

Synopsis

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References

1. (1) Deleanu, C.; Nicolescu, A. NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias. Biomolecules 2024, 14 (5), 528. https://doi.org/10.3390/biom14050528. [doi]
2. (2) Chen, T.; Gao, Y.; Zhang, S.; Wang, Y.; Sui, C.; Yang, L. Methylmalonic Acidemia: Neurodevelopment and Neuroimaging. Front. Neurosci. 2023, 17, 1110942. https://doi.org/10.3389/fnins.2023.1110942. [doi]
3. (3) Forny, P.; Hörster, F.; Ballhausen, D.; Chakrapani, A.; Chapman, K. A.; Dionisi‐Vici, C.; Dixon, M.; Grünert, S. C.; Grunewald, S.; Haliloglu, G.; Hochuli, M.; Honzik, T.; Karall, D.; Martinelli, D.; Molema, F.; Sass, J. O.; Scholl‐Bürgi, S.; Tal, G.; Williams, M.; Huemer, M.; Baumgartner, M. R. Guidelines for the Diagnosis and Management of Methylmalonic Acidaemia and Propionic Acidaemia: First Revision. J. Inherit. Metab. Dis. 2021, 44 (3), 566–592. https://doi.org/10.1002/jimd.12370. [doi]
4. (4) Yuan, Y.; Ma, Y.; Wu, Q.; Huo, L.; Liu, C.-F.; Liu, X. Clinical and Electroencephalogram Characteristics of Methylmalonic Acidemia with MMACHC and MUT Gene Mutations. BMC Pediatr. 2024, 24 (1), 119. https://doi.org/10.1186/s12887-024-04559-8. [doi]
5. (5) Trinh, B. C.; Melhem, E. R.; Barker, P. B. Multi-Slice Proton MR Spectroscopy and Diffusion-Weighted Imaging in Methylmalonic Acidemia: Report of Two Cases and Review of the Literature. AJNR Am. J. Neuroradiol. 2001, 22 (5), 831–833.
6. (6) Saleh, M. G.; Wang, M.; Mikkelsen, M.; Hui, S. C. N.; Oeltzschner, G.; Boissoneault, J.; Stennett, B.; Edden, R. A. E.; Porges, E. C. Simultaneous Edited MRS of GABA, Glutathione, and Ethanol. NMR Biomed. 2020, 33 (4), e4227. https://doi.org/10.1002/nbm.4227. [doi]
7. (7) Simpson, R.; Devenyi, G. A.; Jezzard, P.; Hennessy, T. J.; Near, J. Advanced Processing and Simulation of MRS Data Using the FID Appliance (FID-A)-An Open Source, MATLAB-Based Toolkit. Magn. Reson. Med. 2017, 77 (1), 23–33. https://doi.org/10.1002/mrm.26091. [doi]
8. (8) Hui, S. C. N.; Saleh, M. G.; Zöllner, H. J.; Oeltzschner, G.; Fan, H.; Li, Y.; Song, Y.; Jiang, H.; Near, J.; Lu, H.; Mori, S.; Edden, R. A. E. MRSCloud: A Cloud-Based MRS Tool for Basis Set Simulation. Magn. Reson. Med. 2022, 88 (5), 1994–2004. https://doi.org/10.1002/mrm.29370. [doi]
9. (9) Chang, W.; Gupta, N.; Duane, D.; Barnes, P.; Yeom, K. Atypical Imaging Findings in the Setting of Methylmalonic Acidemia in an Infant. Radiol. Case Rep. 2012, 7 (4), 749. https://doi.org/10.2484/rcr.v7i4.749. [doi]
10. (10) Gropman, A. L.; Anderson, A. Novel Imaging Technologies for Genetic Diagnoses in the Inborn Errors of Metabolism. J. Transl. Genet. Genomics 2020, 4, 429–445. https://doi.org/10.20517/jtgg.2020.09. [doi]
11. (11) Oeltzschner, G.; Zöllner, H. J.; Hui, S. C. N.; Mikkelsen, M.; Saleh, M. G.; Tapper, S.; Edden, R. A. E. Osprey: Open-Source Processing, Reconstruction & Estimation of Magnetic Resonance Spectroscopy Data. J. Neurosci. Methods 2020, 343, 108827. https://doi.org/10.1016/j.jneumeth.2020.108827. [doi]

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http://echo.ismrm.org/p/ISMRM2026/601-03-002