Focal dystonia in an adult with L-2- hydroxyglutaric aciduria

References

1. 1.↵
   1. Yang J,
   2. Chen X,
   3. Jin S,
   4. Ding J

   . Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria. J Biol Chem 2024; 300: 105491.

   OpenUrl
2. 2.↵
   1. Ahmed S,
   2. Siddiqui A,
   3. DeBerardinis RJ,
   4. Ni M,
   5. Gu Lai W,
   6. Cai F, et al.

   L-2-hydroxyglutaric aciduria - review of literature and case series. Ann Med Surg (Lond) 2023; 85: 712-717.

   OpenUrl
3. 3.↵
   1. Kranendijk M,
   2. Struys EA,
   3. Salomons GS,
   4. Van der Knaap MS,
   5. Jakobs C

   . Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis 2012; 35: 571-587.

   OpenUrlCrossRefPubMed
4. 4.↵
   1. Žigman T,
   2. Petković Ramadža D,
   3. Šimić G,
   4. Barić I

   . Inborn errors of metabolism associated with autism spectrum disorders: approaches to intervention. Front Neurosci 2021; 15: 673600.

   OpenUrl
5. 5.↵
   1. Fourati H,
   2. Ellouze E,
   3. Ahmadi M,
   4. Chaari D,
   5. Kamoun F,
   6. Hsairi I, et al.

   MRI features in 17 patients with l2 hydroxyglutaric aciduria. Eur J Radiol Open 2016; 3: 245-250.

   OpenUrl
6. 6.↵
   1. Cansever MŞ,
   2. Öztekin N,
   3. Kıykım E,
   4. Zübarioğlu T,
   5. Aktuğlu Zeybek AÇ

   . Separation and quantification of the urinary enantiomers of 2-hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D- and L-2-hydroxyglutaric aciduria. J Sep Sci 2023; 46: e2300145.

   OpenUrl
7. 7.↵
   1. von Renesse A,
   2. Morales-Gonzalez S,
   3. Gill E,
   4. Salomons GS,
   5. Stenzel W,
   6. Schuelke M

   . Muscle weakness, cardiomyopathy, and L-2-Hydroxyglutaric aciduria associated with a novel recessive SLC25A4 mutation. JIMD Rep 2019; 43: 27-35.

   OpenUrl
8. 8.↵
   1. Mainka T,
   2. Ziagaki A,
   3. de Koning TJ,
   4. Kühn AA,
   5. Ganos C

   . The wide phenotypic spectrum of L-2 hydroxyglutaric aciduria in adults. Mov Disord Clin Pract 2020; 7: 1004-1006.

   OpenUrl
9. 9.↵
   1. Stephen CD

   . The dystonias. Continuum (Minneap Minn) 2022; 28: 1435-1475.

   OpenUrl
10. 10.↵
    1. Steenweg ME,
    2. Jakobs C,
    3. Errami A,
    4. van Dooren SJ,
    5. Adeva Bartolomé MT,
    6. Aerssens P, et al.

    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 2010; 31: 380-390.

    OpenUrlCrossRefPubMedWeb of Science