Pyruvate Dehydrogenase Complex Deficiency
Pyruvate dehydrogenase complex deficiency is a rare disorder, which occurs in the early childhood and after the birth. It is a genetic disorder.
Normally pyruvate dehydrogenase complex is made up of three enzymes namely pyruvate dehydrogenase (E1), pyruvate dihydrolipoyl transferace (E2), and dihydrolipoyl dehydrogenase (E3).
PDCD converts pyruvate to acetyl-CoA, this is used in the citric acid cycle for production of energy for the cell.
When any one of the E1, E2, and E3 enzymes from the complex is absent, the citric acid cycle cannot be completed as Pyruvate cannot get converted to acetyl-coA.This in turn does not produce the energy for your body cells.
Symptoms of PDCD
- Poor intake of food.
- Rapid breathing.
- Poor muscle tone.
- Mental growth retardation.
- Abnormal eye movements.
- Lack of coordination.
- Late response to visual stimuli.
- Slow respiratory rate.
- Head circumference is very small.
Treatment of Pyruvate Dehydrogenase Complex Deficiency
- Cofactor supplementation with thiamine, carnitine and lipoic acid.
- Acidosis is reduced by various drugs.
- Special diet with low carbohydrate and more of fat content. An approximately 65to 80% of fats, 10% of proteins and balance is of carbohydrates.
- Oral citrate is used to treat acidosis.
- Sodium bicarbonate is used to correct acidosis.