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Case Reports
. 2018 Jul 19;5(4):436-438.
doi: 10.1002/mdc3.12633. eCollection 2018 Jul-Aug.

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke

Affiliations
Case Reports

Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke

Diane Demailly et al. Mov Disord Clin Pract. .
No abstract available

Keywords: Asymmetric striatal lesions; Atypical, Glutaric aciduria type I; Hemidystonia; Metabolic.

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Figures

Figure 1
Figure 1
Panel A to E, brain MRI, 2012; A‐B: axial T2w at basal ganglia level, C: FLAIR at another level within the basal ganglia to document the extent of BG abnormalities D: T1w sagittal to document the lack of enlarged Sylvian valley associated with classic GA‐I; E: T2w at more dorsal level to document mild posterior white matter abnormalities. Panel F‐J, brain MRI, 2017; the same sequences and similar levels, documenting stable radiological abnormalities

References

    1. Busquets C, Merinero B, Christensen E et al. Glutaryl‐CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 2000;48(3):315–322. - PubMed
    1. Zschocke J, Quak E, Guldberg P et al. Mutation analysis in glutaric aciduria type I. J Med Genet 2000;37(3):177–181. - PMC - PubMed
    1. Boy N, Mühlhausen C, Maier EM et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017;40(1):75–101. - PubMed
    1. Baric I, Wagner L, Feyh P et al. Sensitivity and specificity of free and total glutaric acid and 3‐hydroxyglutaric acid measurements by stable‐isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 1999;22(8):867–881. - PubMed
    1. Christensen E, Ribes A, Merinero B et al. Correlation of genotype and phenotype in glutaryl‐CoA dehydrogenase deficiency. J Inherit Metab Dis 2004;27(6):861–868. - PubMed

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