First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency

  • Marwa El Masri Saint George Hospital University Of Beirut
  • Carla Chikhani
  • Hicham Mansour
  • Rami Ghabril
  • Dany Hamod
  • Andre Mgarbane
  • Maroun Sokhn
Keywords: Dihydrolipoamide dehydrogenase deficiency, newborn, metabolic disorders

Abstract

Abstract: Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive metabolic disorder characterized by an unpredictable pattern of presentation and a wide phenotypic spectrum. DLD is a common constituent of multiple mitochondrial complexes. It is also known as E3 (dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4). DLD, encoded by the DLD gene, is vital for catalysis. Thus, genetically induced deficiency of the enzyme, although very rare, is associated with failure to thrive, hypotonia, and metabolic acidosis [1,2]. 

In this report, we present the case of a 12-year-old Lebanese boy with a homozygous mutation in the DLD gene: c.685G>T p. Gly229Cys, who presented with liver failure, hyperammonemia, and encephalopathy. Genetic testing of his sibling revealed homozygosity for the same pathogenic variant. 

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Published
2023-04-01
How to Cite
El Masri, M., Chikhani, C., Mansour, H., Ghabril, R., Hamod, D., Mgarbane, A., & Sokhn, M. (2023). First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency . Journal of Rare Diseases and Orphan Drugs, 1 - 4. Retrieved from https://spphllc.com/jrdod/article/view/114
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Editorial