Pyruvate dehydrogenase e3-binding protein deficiency

Common Name(s)

Pyruvate dehydrogenase e3-binding protein deficiency, Lipoamide dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding deficiency, also known as lipoamide dehydrogenase deficiency, is a very rare inherited disease and a mild form of pyruvate dehydrogenase deficiency (PDHD). This group of disorders (PDHD) is caused by the abnormal functioning of specialized cells in the body that deprive the body of energy. This disorder is characterized by metabolic abnormalities (the body/cellular processes that produce energy), neurological damage, low muscle tone, developmental delay, and movement difficulties. Most babies born with this condition show lactic acidosis in infancy, which is a harmful buildup of too much lactic acid in the blood. Lactic acid is produced in the body when oxygen levels are low due to the abnormalities in the cells. Signs and symptoms of lactic acidosis include vomiting, abdominal pain, breathing difficulty and rapid heartbeat. Brain abnormalities may be seen on imaging studies such as MRI in some patients. Infants with this form of PDHD (E3) survive well into childhood or adulthood with proper care.

Lipoamide dehydrogenase deficiency is inherited (passed through families) in an autosomal recessive manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease. Treatment may include diet changes, vitamins, and supplements and requires the input of many specialists.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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