Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency (PDD) is an inherited disorder that affects the breakdown of carbohydrates, proteins, and fats. It is caused by a deficiency of the enzyme pyruvate dehydrogenase (PDH), which is responsible for converting pyruvate (a product of carbohydrate metabolism) into acetyl-coenzyme A, which then enters the Krebs cycle and produces energy. PDD can lead to a range of symptoms including muscle weakness, fatigue, seizures, developmental delays, and poor growth. Treatment of PDD involves dietary modifications, dietary supplements, and medications such as thiamine.