Metabolism Disorders

Question 1

What is the treatment for a pyruvate dehydrogenase deficiency?

Answer 1

Ketogenic diet rich in lysine and leucine

lysine and leucine DO NOT need to be converted into a pyruvate intermediate to enter the TCA cycle

Question 2

A young child comes into your office with absent DTR and loss of sensation. Blood test reveals lactic acidosis as well as high serum concentration of alanine. Where is the deficiency?

Answer 2

Pyruvate Dehydrogenase Complex