Gene DLD
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Also known as
DLDH, GCSL, LAD, PHE3, E3, dihydrolipoamide dehydrogenaseOverview
DLD (Dihydrolipoamide Dehydrogenase) encodes a component shared by four mitochondrial enzyme complexes: pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, branched-chain alpha-ketoacid dehydrogenase, and the glycine cleavage system. This enzyme is essential for energy production and amino acid metabolism.Mutations in DLD cause dihydrolipoamide dehydrogenase deficiency, a rare metabolic disorder with variable presentations including lactic acidosis, developmental delay, hypotonia, and liver dysfunction. A milder form affects primarily the branched-chain amino acid pathway (variant maple syrup urine disease). The Ashkenazi Jewish population has an increased carrier frequency for a specific DLD mutation.
Understanding your DLD genetic status is relevant for carrier screening, particularly in Ashkenazi Jewish populations. Identification of carriers enables informed reproductive planning, and early diagnosis in affected individuals allows for dietary management to reduce accumulation of toxic metabolites.