Lipoamide Dehydrogenase Deficiency is an extremely rare disease often referred to as E3. The condition is inherited. Due to the extreme rarity of the condition, significant medical information and treatment options are lacking.
Who is at Risk?
There have been less than 20 cases of Lipoamide Dehydrogenase Deficiency reported worldwide. Approximately one out of every 100 Ashkenazi Jews carries the disease. Genetic testing can be used to reveal carrier status. If both parents carry a recessive form of the disease, children born to those parents are at increased risk of developing the disorder.
Symptoms
Symptoms of Lipoamide Dehydrogenase Deficiency can present as early as eight weeks of age, but some cases do not present until adulthood. The disease causes lactic acid to buildup in the body. When lactic acid builds up, the patient may suffer from:
- Vomiting
- Pain in the abdomen
- Rapid breathing
- Maple syrup scented urine
In addition to the direct side effects of lactic acid buildup, patients may also suffer buildup of other substances, such as:
- Alpha-ketoglutarate
- Blood pyruvate
- Branched chain amino acids
- Alpha-hydroxyisovalerate
- Alpha-hydroxyglutarate
Children with Lipoamide Dehydrogenase Deficiency may present with:
- Delayed development
- Poor neurologic development
- Decreased muscle tone
Diagnosis
Due to the rarity of the disease, there is no established means of diagnosing the condition. Genetic testing can reveal if parents are the carrier of the disease. Children are often diagnosed based on a combination of family history, parental genetic testing and blood tests.
Treatment
There is no known treatment for Lipoamide Dehydrogenase Deficiency. Patients are treated for the symptoms they are experiencing as a result of lactic acidosis or the buildup of other substances in the body.
Life Expectancy
Prognosis for Lipoamide Dehydrogenase Deficiency is based on the severity of the condition. If lactic acid buildup can be controlled, the disease is manageable. However, with so few cases, prognosis is not well-established. In many cases, patients died from the disease in childhood.