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: 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 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. 


Quinonez SC, Thoene JG. Dihydrolipoamide Dehydrogenase Deficiency. 2014 Jul 17 [updated 2021 Sep 30]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.

GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 25032271.

Quinonez SC, Seeley AH, Seeterlin M, Stanley E, Ahmad A. Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte. Mol Genet Metab Rep. 2014 Aug 15;1:345-349. doi: 10.1016/j.ymgmr.2014.07.007. PMID: 27896107; PMCID: PMC5121342.

Nair P, Sabbagh S, Mansour H, Fawaz A, Hmaimess G, Noun P, Dagher R, Megarbane H, Hana S, Alame S, Lamaa M, Hasbini D, Farah R, Rajab M, Stora S, El-Tourjuman O, Abou Jaoude P, Chalouhi G, Sayad R, Gillart AC, Al-Ali M, Delague V, El-Hayek S, Mégarbané A. Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases. Mol Genet Genomic Med. 2018 Nov;6(6):1041-1052. doi: 10.1002/mgg3.480. Epub 2018 Oct 7. PMID: 30293248; PMCID: PMC6305638.

Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1. PMID: 23478190.

American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system--executive summary. Pediatrics. 2006 May;117(5 Pt 2):S296-307. doi: 10.1542/peds.2005-2633I. PMID: 16735256.

Uçar SK, Ozbaran B, Altinok YA, Kose M, Canda E, Kagnici M, Coker M. One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency. JIMD Rep. 2015;19:31-3. doi: 10.1007/8904_2014_361. Epub 2015 Feb 10. PMID: 25665834; PMCID: PMC4501229.

Al-Fata S, Masri M, Hage P, Hamod D, Diab N, Ghanem S, Megarbane A, El-Khoury R, Sacy S, Mansour H. First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome. SVOA Paediatrics. doi: 10.58624/SVOAPD.2023.02.029.

Barbour B, Salameh P. Consanguinity in Lebanon: prevalence, distribution, and determinants. J Biosoc Sci. 2009 Jul;41(4):505-17. doi: 10.1017/S0021932009003290. Epub 2009 Jan 28. PMID: 19175949.

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, 4, 1 - 4.