Pyruvate Dehydrogenase Deficiency: Causes, Symptom & Treatment for PDH

Pyruvate dehydrogenase deficiency is a genetic disorder involving abnormal carbohydrate metabolism. As a result there is metabolic acidosis in the infant and the child. This gives variety of symptoms, mental retardation and neurological deficits are prominent ones.

Carbohydrates are metabolized and utilized for the purpose of energy production, for this it has to be reduced to simple form of glucose and other sugars.

The carbohydrate has to pass through the citric cycle or Krebs cycle for its breakdown. There are some enzymes involved in this cycle such as pyruvate dehydrogenase complex; deficiency of this enzyme will inhibit carbohydrate breakdown and increase lactic acidosis.

Pyruvate Dehydrogenase Deficiency Symptoms

  • Low birth weight.
  • Abnormal appearance of the face.
  • Short neck, short hands
  • Poor muscle tone.
  • Lethargy.
  • Seizures.
  • Mental retardation.
  • Abnormal muscle movement.
  • Poor food intake.
  • Spastic condition.

Diagnosis of Pyruvate Dehydrogenase Deficiency

At birth if there is lactic acidosis with structural abnormalities in brain, MRS shows concentration of lactate in the central nervous system. Blood and urine analysis will show high levels of amino acid alanine.


  • Supplementing with cofactor thiamine, carnitin and lipoic acid.
  • Low carbohydrate diet.
  • Diet more in fats.
  • To decrease acidosis, oral use of acidosis.
  • To correct acidosis, use of sodium bicarbonate.

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