First Reported Lebanese Patient with Dihydrolipoamide Dehydrogenase Deficiency
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 126.96.36.199). 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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