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Research ArticlePediatric Neuroimaging
Open Access

Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging

B. Bian, Z. Liu, D. Feng, W. Li, L. Wang, Y. Li and D. Li
American Journal of Neuroradiology July 2023, DOI: https://doi.org/10.3174/ajnr.A7928
B. Bian
aFrom the Departments of Radiology (B.B., Z.L., D.L.)
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Z. Liu
aFrom the Departments of Radiology (B.B., Z.L., D.L.)
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D. Feng
bOutpatient Pediatrics (D.F.)
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W. Li
dState Key Laboratory of Stem Cell and Reproductive Biology (W.L., L.W.), Chinese Academy of Sciences and University, Beijing, China
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L. Wang
dState Key Laboratory of Stem Cell and Reproductive Biology (W.L., L.W.), Chinese Academy of Sciences and University, Beijing, China
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Y. Li
cGene Therapy Laboratory (Y.L.), The First Hospital of Jilin University, Changchun, Jilin, China
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D. Li
aFrom the Departments of Radiology (B.B., Z.L., D.L.)
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References

  1. 1.↵
    1. Hedlund GL,
    2. Longo N,
    3. Pasquali M
    . Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet 2006;142C:86–94 doi:10.1002/ajmg.c.30088 pmid:16602100
    CrossRefPubMed
  2. 2.↵
    1. Fu Z,
    2. Wang M,
    3. Paschke R, et al
    . Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. Biochemistry 2004;43:9674–84 doi:10.1021/bi049290c pmid:15274622
    CrossRefPubMed
  3. 3.↵
    1. Schmiesing J,
    2. Lohmoller B,
    3. Schweizer M, et al
    . Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture. Hum Mol Genet 2017;26:538–51 doi:10.1093/hmg/ddw411 pmid:28062662
    CrossRefPubMed
  4. 4.↵
    1. Funk CB,
    2. Prasad AN,
    3. Frosk P, et al
    . Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain 2005;128:711–22 doi:10.1093/brain/awh401 pmid:15689364
    CrossRefPubMedWeb of Science
  5. 5.↵
    1. Zinnanti WJ,
    2. Lazovic J,
    3. Housman C, et al
    . Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I. Acta Neuropathol Commun 2014;2:13 doi:10.1186/2051-5960-2-13 pmid:24468193
    CrossRefPubMed
  6. 6.↵
    1. Boy N,
    2. Garbade SF,
    3. Heringer J, et al
    . Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1. J Inherit Metab Dis 2019;42:117–27 doi:10.1002/jimd.12033 pmid:30740735
    CrossRefPubMed
  7. 7.↵
    1. Ntorkou AA,
    2. Daire J,
    3. Renaldo F, et al
    . Enlargement of the optic chiasm: a novel imaging finding in glutaric aciduria type 1. AJNR Am J Neuroradiol 2021;42:1722–26 doi:10.3174/ajnr.A7199 pmid:34244130
    Abstract/FREE Full Text
  8. 8.↵
    1. Mohammad SA,
    2. Abdelkhalek HS,
    3. Ahmed KA, et al
    . Glutaric aciduria type 1: neuroimaging features with clinical correlation. Pediatr Radiol 2015;45:1696–705 doi:10.1007/s00247-015-3395-8 pmid:26111870
    CrossRefPubMed
  9. 9.↵
    1. Sadek AA,
    2. Aladawy MA,
    3. Magdy RM, et al
    . Clinico-radiological correlation in 26 Egyptian children with glutaric acidemia type 1. Neuropediatrics 2021;52:431–40 doi:10.1055/s-0040-1722681 pmid:33622013
    CrossRefPubMed
  10. 10.↵
    1. Garbade SF,
    2. Greenberg CR,
    3. Demirkol M, et al
    . Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. J Inherit Metab Dis 2014;37:763–73 doi:10.1007/s10545-014-9676-9 pmid:24810368
    CrossRefPubMed
  11. 11.↵
    1. Steenweg ME,
    2. Pouwels PJ,
    3. Wolf NI, et al
    . Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Brain 2011;134:3333–41 doi:10.1093/brain/awr254 pmid:22006980
    CrossRefPubMedWeb of Science
  12. 12.↵
    1. van Rappard DF,
    2. Konigs M,
    3. Steenweg ME, et al
    . Diffusion tensor imaging in metachromatic leukodystrophy. J Neurol 2018;265:659–68 doi:10.1007/s00415-018-8765-3 pmid:29383515
    CrossRefPubMed
  13. 13.↵
    1. Clocksin HE,
    2. Hawks ZW,
    3. White DA, et al
    . Inter- and intra-tract analysis of white matter abnormalities in individuals with early-treated phenylketonuria (PKU). Mol Genet Metab 2021;132:11–18 doi:10.1016/j.ymgme.2020.12.001 pmid:33334682
    CrossRefPubMed
  14. 14.↵
    1. Guo AC,
    2. Petrella JR,
    3. Kurtzberg J, et al
    . Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology 2001;218:809–15 doi:10.1148/radiology.218.3.r01mr14809 pmid:11230660
    CrossRefPubMedWeb of Science
  15. 15.↵
    1. Jensen JH,
    2. Helpern JA
    . MRI quantification of non-Gaussian water diffusion by kurtosis analysis. NMR Biomed 2010;23:698–710 doi:10.1002/nbm.1518 pmid:20632416
    CrossRefPubMedWeb of Science
  16. 16.↵
    1. Boy N,
    2. Muhlhausen C,
    3. Maier EM, et al
    ; Additional individual contributors. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017;40:75–101 doi:10.1007/s10545-016-9999-9 pmid:27853989
    CrossRefPubMed
  17. 17.↵
    1. Barry MJ,
    2. VanSwearingen JM,
    3. Albright AL
    . Reliability and responsiveness of the Barry-Albright Dystonia Scale. Dev Med Child Neurol 1999;41:404–11 doi:10.1017/s0012162299000870 pmid:10400175
    CrossRefPubMedWeb of Science
  18. 18.↵
    1. Qiao PG,
    2. Cheng X,
    3. Li GJ, et al
    . MR diffusional kurtosis imaging-based assessment of brain microstructural changes in patients with Moyamoya disease before and after revascularization. AJNR Am J Neuroradiol 2020;41:246–54 doi:10.3174/ajnr.A6392 pmid:31974078
    Abstract/FREE Full Text
  19. 19.↵
    1. Strauss KA,
    2. Lazovic J,
    3. Wintermark M, et al
    . Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain 2007;130:1905–20 doi:10.1093/brain/awm058 pmid:17478444
    CrossRefPubMedWeb of Science
  20. 20.↵
    1. Guglielmetti C,
    2. Veraart J,
    3. Roelant E, et al
    . Diffusion kurtosis imaging probes cortical alterations and white matter pathology following cuprizone induced demyelination and spontaneous remyelination. Neuroimage 2016;125:363–77 doi:10.1016/j.neuroimage.2015.10.052 pmid:26525654
    CrossRefPubMed
  21. 21.↵
    1. Tan S,
    2. Hartono S,
    3. Welton T, et al
    . Utility of quantitative susceptibility mapping and diffusion kurtosis imaging in the diagnosis of early Parkinson’s disease. Neuroimage Clin 2021;32:102831 doi:10.1016/j.nicl.2021.102831 pmid:34619654
    CrossRefPubMed
  22. 22.↵
    1. Spampinato MV,
    2. Chan C,
    3. Jensen JH, et al
    . Diffusional kurtosis imaging and motor outcome in acute ischemic stroke. AJNR Am J Neuroradiol 2017;38:1328–34 doi:10.3174/ajnr.A5180 pmid:28473339
    Abstract/FREE Full Text
  23. 23.↵
    1. Marrale M,
    2. Collura G,
    3. Brai M, et al
    . Physics, techniques and review of neuroradiological applications of diffusion kurtosis imaging (DKI). Clin Neuroradiol 2016;26:391–403 doi:10.1007/s00062-015-0469-9 pmid:26589207
    CrossRefPubMed
  24. 24.↵
    1. Helpern JA,
    2. Adisetiyo V,
    3. Falangola MF, et al
    . Preliminary evidence of altered gray and white matter microstructural development in the frontal lobe of adolescents with attention-deficit hyperactivity disorder: a diffusional kurtosis imaging study. J Magn Reson Imaging 2011;33:17–23 doi:10.1002/jmri.22397 pmid:21182116
    CrossRefPubMed
  25. 25.↵
    1. Isasi E,
    2. Korte N,
    3. Abudara V, et al
    . Glutaric acid affects pericyte contractility and migration: possible implications for GA-I pathogenesis. Mol Neurobiol 2019;56:7694–707 doi:10.1007/s12035-019-1620-4 pmid:31104295
    CrossRefPubMed
  26. 26.↵
    1. Hori M,
    2. Fukunaga I,
    3. Masutani Y, et al
    . Visualizing non-Gaussian diffusion: clinical application of q-space imaging and diffusional kurtosis imaging of the brain and spine. Magn Reson Med Sci 2012;11:221–33 doi:10.2463/mrms.11.221 pmid:23269009
    CrossRefPubMed
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Cite this article
B. Bian, Z. Liu, D. Feng, W. Li, L. Wang, Y. Li, D. Li
Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging
American Journal of Neuroradiology Jul 2023, DOI: 10.3174/ajnr.A7928

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Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging
B. Bian, Z. Liu, D. Feng, W. Li, L. Wang, Y. Li, D. Li
American Journal of Neuroradiology Jul 2023, DOI: 10.3174/ajnr.A7928
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