Dihydrolipoamide dehydrogenase (DLD) deficiency is a rare inherited condition that is most common in people of Ashkenazi Jewish descent. The age of onset, and severity of symptoms can vary, but most affected individuals usually exhibit low muscle tone, brain abnormalities, and liver disease. If symptoms develop in infancy, children usually do not survive past the first few years of life.
DLD deficiency is caused by impaired function of the dihydrolipoamide dehydrogenase (DLD) enzyme, which is a component of three other enzyme complexes. In the absence of a functioning DLD enzyme, molecules usually broken down by these enzyme groups accumulate in the body leading to tissue damage. The majority of the damage is caused by the buildup of lactic acid in cells (lactic acidosis) as it affects the acidity in the internal environment.
Take this test to find out whether you are a genetic carrier of a DLD gene variant and are at risk of passing the variant to your children.
DLD deficiency is caused by genetic variation in the DLD gene, which disrupts the function of the DLD enzyme. This leads to a harmful accumulation of specific molecules within the cells and reducing the availability of cellular energy.
DLD deficiency is inherited in an autosomal recessive pattern, which means two defective copies of the DLD gene must be inherited in order for the disease to manifest.
- Decreased muscle tone (hypotonia)
- Extreme tiredness (lethargy)
- Difficulty feeding
- Decreased alertness
- Buildup of lactic acid (lactic acidosis)
- Growth delays
- Intellectual disabilities
- Muscle stiffness (spasticity)
- Difficulty coordinating movements (ataxia)
- Liver problems
- Recurrent vomiting
- Abdominal pain
- Enlarged liver (hepatomegaly)
- Skeletal muscle weakness
- Droopy eyelids
- Cardiomyopathy (weak heart muscles)
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