Dihydrolipoamide dehydrogenase (DLD, LADH- or E3-) deficiency is a genetic disorder with autosomal recessive inheritance. The prevalence has only been estimated for the Ashkenazi Jewish population; approximately 1% of the population carries the disease-causing Gly194Cys amino acid substitution (numbering reflects the mature protein of 474 residues; the mitochondrial leader sequence comprises 35 amino acid residues), while the disease frequency is between 1:35,000 to 1:48,000. The clinical phenotypes of E3-deficiency are versatile and range from early-onset neurologic deficits to adult-onset hepatic presentations. The recurrent metabolic episodes are frequently associated with hypoglycemia, lactic acidosis, hyperammonemia, and hepatomegaly; liver failure can also be fatal, even in individuals with late-onset presentations.
DLD