Pyruvate Dehydrogenase Complex Deficiency Medication

Updated: Feb 18, 2016
  • Author: Richard E Frye, MD, PhD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Medication

Medication Summary

Cofactor supplementation with thiamine, carnitine, and lipoic acid is the standard of care. The cases of pyruvate dehydrogenase complex deficiency (PDCD) that are responsive to these cofactors respond to supplementation, especially thiamine. Some evidence suggests that high doses of thiamine may be most effective in some mutations causing thiamine-responsive pyruvate dehydrogenase complex deficiency. However, administration of all of these cofactors to all patients with pyruvate dehydrogenase complex deficiency is typical in order to optimize pyruvate dehydrogenase complex function.

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Cofactors

Class Summary

Organic substances required by the body in small amounts for various metabolic processes. They are essential for new cell growth and division. They are used clinically for the prevention and treatment of specific deficiency states.

Biotin

Essential cofactor for several important enzymes, including an alternative pathway for pyruvate. Vitamin H is a synonym.

Thiamine (Thiamilate)

Important cofactor for the pyruvate dehydrogenase complex E1 enzyme. Some disorders are responsive to simple supplementation.

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Enzyme activator

Class Summary

Dichloroacetate sodium is the only drug found to activate the enzyme complex.

Dichloroacetate sodium

A compound believed to activate the PDC by inhibiting the inactivating kinase. This decreases lactate production and promotes pyruvate oxidation.

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Alkalinizing agents

Class Summary

Sodium bicarbonate is used as a gastric, systemic, and urinary alkalinizer and has been used in the treatment of acidosis resulting from metabolic and respiratory causes including diabetic coma, diarrhea, kidney disturbances, and shock. Sodium bicarbonate also increases renal clearance of acidic drugs. Citric acid mixtures may also be used. With normal hepatic function, 1 mEq of citrate is converted to 1 mEq of bicarbonate.

Sodium bicarbonate

Can be used to correct the acidosis in chronic and acute settings.

Citrate mixtures (Bicitra, Oracit, Cytra-K)

Several mixtures of citrate with sodium or potassium or both are available as alkalinizing agents. With normal hepatic function, 1 mEq of citrate is converted to 1 mEq of bicarbonate.

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