The Inborn Errors of Metabolism was still an uncharted field upon my return to Lebanon. I had the chance of learning the depths of this specialty at the hands of Pr Brigitte Chabrol in Marseille, and when i returned to practice in Lebanon I was amazed of the number of undiagnosed patients in my country, where we have a huge rate of consanguinity. I started including metabolic conferences during the yearly congress of the Lebanese Pediatric Society, and managed to spread awareness about these disorders in Lebanon during the past decade, but much more work remains to be done.
Following are some articles describing some aspects of the Inborn errors of metabolism in Lebanon, the mitochondrial diseases are until now the most common of the inborn errors of Metabolism in my country.
Clinical and Paraclinical Aspects of Mitochondrial Diseases in 257 Lebanese Children. SM J Pediatr. 2018; 3(1): 1018 Read the Article Online
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency - J Pediatr Genet J Pediatr Genet 2019; 08(03): 172-178 Read The Article Online
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review. J Pediatr Genet 2019; 08(04): 252-256 Read the Article Online
Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis BMJ Case Rep. 2013 Apr 29;2013. Read The Article Online
Les maladies rares au Liban: difficultés diagnostiques et thérapeutiques - Arch Pediatr. 2015 May;22(5 Suppl 1):1-2 Link to the Article (the article is not available for free online but don't hesitate to Email me in case you need a personnel copy)
Fabry disease in childhood . Presse Med. 2007.36 (Spec No 1):1S32-5 Link to the article
Absence epilepsy and/or myoclonic epilepsy in child, think of Glut1 deficiency syndrome (two case reports) . J Inherit Metab Dis 2008. 31(Supp 1):41Infantile form of Pompe Disease: two cases with dramatical response to enzymological therapy. J Inherit Metab Dis 2008. 31(Supp 1):126
Liver Failure in a 18 month girl with celiac disease - Journal of Pediatric Gastroenterology and Nutrition 2004 . 39 (Supp 1) : S160 Link to the Article
Pilot study of IEM by MS/MS in Lebanon: An additional step towards a national registry – J Inherit Metab Dis (2015) 38 (Suppl 1):S1–S34 (S6)
Beware of abnormal capillary electrophoretic patterns of serum transferrin: congenital disorder of glycosylation (CDG) type I can be associated with a protein variant - J Inherit Metab Dis (2016) 39 (Suppl 1):S1–S34 - DOI 10.1007/s10545-016-9970-9