What is Lactate dehydrogenase deficiency?
• Lactate dehydrogenase deficiency: An inherited genetic muscle disease where an enzyme deficiency (lactate dehydrogenase) affects the normal processes that convert carbohydrates from food into energy which affects muscles. Lactate dehydrogenase facilitates the conversion of lactate to pyruvate and vice versa. Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Lactate dehydrogenase deficiency as a “rare disease”.
