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  3. Vol. 14 No. 4 (2020): autumn
  4. Neurometabolic Disorder Articles

ISSN: 1735-4668

autumn
Vol. 14 No. 4 (2020)

Succinate Dehydrogenase Deficiency, a Treatable Neurometabolic Disorder

  • Parvaneh Karimzadeh
  • Mohammad Keramati Pour
  • Arezou Karamzade
  • Elham Pourbakhtyaran

Iranian Journal of Child Neurology, Vol. 14 No. 4 (2020), , Page 111-116
https://doi.org/10.22037/ijcn.v14i4.28633 Published 1 October 2020

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Abstract

Succinate dehydrogenase (SDH) deficiency is a rare autosomal recessive neurometabolic disorder that causes brain insult, neurodevelopmental delay, exercise intolerance, and cardiomyopathy. A 25-month-old boy was referred to our neurometabolic center due to developmental regression after injecting the influenza vaccine when he was 10 months old. Magnetic resonance imaging (MRI) showed high signal changes in the brain white matter, and magnetic resonance spectroscopy (MRS) detected a high succinate peak at 2.4 parts per million (ppm). The evaluation of urine organic acids showed a significant elevated succinic acid and whole exome sequencing, confirming SDH. Treatment with a mitochondrial cocktail was initiated, and remarkable improvement was observed. SDH deficiency as a treatable neurometabolic disorder should be considered in any patients with developmental disorders, accompanied by hyperintensity in white matter (as similar to leukodystrophia). Further evaluation is recommended since outcomes depend on early diagnosis and treatment.


 

Keywords:
  • Succinate dehydrogenase deficiency
  • Mitochondrial disorders
  • developmental regression
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How to Cite

Karimzadeh, P., Keramati Pour, M., Karamzade, A., & Pourbakhtyaran, E. (2020). Succinate Dehydrogenase Deficiency, a Treatable Neurometabolic Disorder. Iranian Journal of Child Neurology, 14(4), 111-116. https://doi.org/10.22037/ijcn.v14i4.28633
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References

-Bourgeron T., Rustin P., Chretien D., Birch-Machin, M., Bourgeois M., Viegas-Pequignot E. et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet, 1995, 11: 144–149

-Rustin P. and Rotig A. Inborn errors of complex II, unusual human mitochondrial diseases. Biochim. Biophys. Acta, 2000, 1553: 117–122

-Brière J.-J., Favier J., Ghouzzi V. El, Djouadi F., Bénit P., Gimenez A.-P., et al. Succinate dehydrogenase deficiency in human. Cellular and Molecular Life Sciences CMLS, 2005, 62

-Bourgeron T., Rustin P., Chretien D., Birch-Machin,M., Bourgeois M., Viegas-Pequignot E. et al. (1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet, 11: 144–149

-Vladutiu GD., Heffner RR. Succinate Dehydrogenase Deficiency: A Qualitative and Quantitative Assessment in Muscle. Arch Pathol Lab Med, 2000, Vol 124

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