Pyruvate Dehydrogenase Complex Deficiency Disease

The pyruvate dehydrogenase complex is composed of three enzymes, pyruvate dehydrogenase (E1), dihydrolipoyl transferase (E2), and dihydrolipoyl dehydrogenase (E3). Its function is to convert pyruvate to acetyl-CoA which is then fed into the citric acid cycle and used to produce energy for the cell.

Pyruvate Dehydrogenase Complex Deficiency Disease (PDCD)

• When any one of the enzymes that make up the complex are missing, pyruvate cannot be converted to acetyl-CoA and the citric acid cycle cannot produce the energy the body needs.

Cause of PDCD

• The most common cause of PDCD is a deficiency of the E1 enzyme. The gene responsible for producing E1 is on the X chromosome and exhibits a dominant inheritance pattern. Therefore, both males and females are affected, but males are often more severely affected since they have only one X chromosome.

Symptoms

• PDCD greatly affects the brain and central nervous system. The brain may not develop properly and the myelin sheath insulating some nerves may be missing entirely. Mental development problems, poor muscle tone, seizures and lethargy are typical.

Treatment

• Treatment consists of supplements to stimulate the pyruvate dehydrogenase complex, drugs to reduce the acidosis caused by a buildup of pyruvate and special diets.

Prognosis

• Babies born with PDCD usually die at an early age. Later childhood onset of PDCD usually indicates a less severe form and the patient may live a normal lifespan, but with some mental development issues, according to Healthline.com.