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Genomics Precision Diagnostic > Metabolic Precision Panel > Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel

Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel

Congenital Disorders of Glycosylation (CDG) are a group of rapidly expanding metabolic disorders that arise due to abnormal protein or lipid glycosylation. There are difficulties trying to diagnose them because they broadly affect many organs and functions, demonstrating a clinical heterogeneity. 
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Leigh syndrome (subacute necrotizing encephalomyelopathy) is a severe neurological disorder that generally presents in infancy or early childhood, although it can appear during late childhood and even adulthood. It is characterized by developmental delay or psychomotor regression, ataxia, dystonia, external ophthalmoplegia, seizures, vomiting and weakness. The phenotype of Leigh syndrome is caused by alterations of mitochondrial metabolism from a variety of mechanisms including pyruvate dehydrogenase complex and respiratory chain dysfunction due to either nuclear or mitochondrial DNA mutations. This, in turn, results in brain lesions and damage of myelin sheaths coating the nerves. Leigh syndrome can have different inheritance patterns but it is most commonly inherited in an autosomal recessive pattern.  

  • The Igenomix Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

     

Indication

  • The Igenomix Leigh Syndrome and Mitochondrial Encephalopathy Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations during the newborn period: 
    • Psychomotor regression 
    • Ataxia 
    • Dystonia 
    • Hypotonia 
    • External Ophthalmoplegia 
    • Lactic acidosis 
    • Vomiting 
    • Weakness 
    • Delayed growth development 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
  • Early initiation of multidisciplinary treatment including supplements, vitamins, pyruvate, dichloroacetate and a ketogenic diet. Consider immunomodulatory therapies if necessary. 
  • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
  • Improvement of delineation of genotype-phenotype correlation. 

Genes & Diseases

Methodology

References

See scientific referrals

Finsterer, J. (2008). Leigh and Leigh-Like Syndrome in Children and Adults. Pediatric Neurology, 39(4), 223-235. doi: 10.1016/j.pediatrneurol.2008.07.013 

Rahman, S., Blok, R., Dahl, H., Danks, D., Kirby, D., & Chow, C. et al. (1996). Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Annals Of Neurology, 39(3), 343-351. doi: 10.1002/ana.410390311 

Lee, H., Tsai, C., Chi, C., Lee, H., & Chen, C. (2009). Leigh Syndrome: Clinical and Neuroimaging Follow-Up. Pediatric Neurology, 40(2), 88-93. doi: 10.1016/j.pediatrneurol.2008.09.020 

Lake, N., Compton, A., Rahman, S., & Thorburn, D. (2015). Leigh syndrome: One disorder, more than 75 monogenic causes. Annals Of Neurology, 79(2), 190-203. doi: 10.1002/ana.24551 

Baertling, F., Rodenburg, R. J., Schaper, J., Smeitink, J. A., Koopman, W. J., Mayatepek, E., Morava, E., & Distelmaier, F. (2014). A guide to diagnosis and treatment of Leigh syndrome. Journal of neurology, neurosurgery, and psychiatry, 85(3), 257–265. https://doi.org/10.1136/jnnp-2012-304426 

Lake, N. J., Bird, M. J., Isohanni, P., & Paetau, A. (2015). Leigh syndrome: neuropathology and pathogenesis. Journal of neuropathology and experimental neurology, 74(6), 482–492. https://doi.org/10.1097/NEN.0000000000000195 

Chen, L., Cui, Y., Jiang, D., Ma, C. Y., Tse, H. F., Hwu, W. L., & Lian, Q. (2018). Management of Leigh syndrome: Current status and new insights. Clinical genetics, 93(6), 1131–1140. https://doi.org/10.1111/cge.13139 

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