Metabolism Quiz
Enzyme deficiency

PDH deficiency

What is missing: Pyruvate dehydrogenase.

Presentation
Lactic acidosis from birth with neurological impairment, worsened by a high-carbohydrate meal

Why the signs follow

Pyruvate cannot enter the TCA cycle so it is shunted to lactate and alanine. Treatment is a ketogenic diet, because ketones and lysine and leucine bypass the block by entering as acetyl-CoA directly.

Written for exam preparation, not for diagnosis.