Dihydrolipoamide Dehydrogenase Deficiency

Dihydrolipoamide Dehydrogenase (DLD) Deficiency is a rare inherited metabolic disorder that affects multiple enzyme systems in the body. Also known as E3 deficiency or lipoamide dehydrogenase deficiency, this condition impairs the body's ability to convert food into energy.

The DLD enzyme is a shared component of three critical enzyme complexes: pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, and branched-chain alpha-ketoacid dehydrogenase. When DLD is deficient, all three complexes malfunction, leading to accumulation of toxic metabolites and energy deficiency in cells.

Symptoms typically appear in early infancy and can include poor feeding, failure to thrive, hypotonia (low muscle tone), developmental delays, seizures, and metabolic crises triggered by illness or fasting. During metabolic crises, affected individuals may experience vomiting, lethargy, low blood sugar, and lactic acidosis. Liver dysfunction is also common.

The condition is caused by mutations in the DLD gene and is inherited in an autosomal recessive pattern. The severity can vary significantly, with some individuals experiencing severe symptoms in infancy while others may have a milder course. A specific founder mutation is particularly common in the Ashkenazi Jewish population.

NutraHacker examines the following gene related to Dihydrolipoamide Dehydrogenase Deficiency:

• DLD

For more information about your own genetic profile as related to DLD Deficiency, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.