Succinate dehydrogenase (SDH) deficiency leukoencephalopathy

Evidence-based neurology checklist on succinate dehydrogenase (sdh) deficiency leukoencephalopathy: Pathology Succinate dehydrogenase (SDH) is a mitochondrial complex II enzyme It consists of four subunits: A-D A and B subunits are catalytic C and D subunits are anchoring Magnetic resonance…

Pathology

  • Succinate dehydrogenase (SDH) is a mitochondrial complex II enzyme
  • It consists of four subunits: A-D
  • A and B subunits are catalytic
  • C and D subunits are anchoring
  • Magnetic resonance spectroscopy (MRS) shows elevated succinate
  • Genetic mutations: SDHA, SDHB, and SDHAF1

Neurological features

Triggers for regression

Systemic features

Differential diagnosis

Magnetic resonance imaging (MRI): lesion locations

Biochemical tests

Treatment

Acronyms

References

  1. Helman G, Caldovic L, Whitehead MT, et al. Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy. Ann Neurol 2016; 79:379-386.
  2. Ohlenbusch A, Edvardson S, Skorpen J, et al. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet J Rare Dis 2012; 7:69.
  3. Jain-Ghai S, Cameron JM, Al Maawali A, et al. Complex II deficiency-a case report and review of the literature. Am J Med Genet A 2013; 161A:285-294. 
  4. Brière JJ, Favier J, El Ghouzzi V, Djouadi F, Bénit P, Gimenez AP, Rustin P. Succinate dehydrogenase deficiency in human. Cell Mol Life Sci 2005; 62:2317-2324. 
  5. Pinard JM, Marsac C, Barkaoui E, et al. Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin. Arch Pediatr 1999; 6:421-426.

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