Dihydrolipoamide Dehydrogenase Deficiency (E3 Deficiency)
Summary
DLD deficiency affects a shared enzyme component (E3) used by three critical metabolic enzyme complexes: pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and branched-chain alpha-keto acid dehydrogenase. This means it simultaneously disrupts energy production from carbohydrates, a key step in the citric acid cycle, and branched-chain amino acid metabolism.
Practical takeaway
This matters when planning children, particularly if your partner is Ashkenazi Jewish. A carrier test can determine partner status. Realised does not calculate reproductive risk or advise on reproductive decisions.
Evidence detail
What Carrier Status Means For You
You are not affected. One working copy of DLD produces sufficient E3 enzyme for normal function. Standard 25/50/25 recessive inheritance applies if your partner is also a carrier.
Population Context
The G229C variant is an Ashkenazi Jewish founder mutation with a carrier frequency of approximately 1 in 94. Outside this population, DLD deficiency is extremely rare. Part of the expanded Ashkenazi carrier panel.
Limitations
23andMe tests 1 DLD variant. For Ashkenazi individuals, coverage of the primary founder allele is adequate. For non-Ashkenazi, coverage is minimal. Comprehensive screening recommended if clinically indicated.