Pyruvate dehydrogenase deficiency
1,125views
Pyruvate dehydrogenase deficiency
Boards Biochem
Boards Biochem
Glycolysis
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Pentose phosphate pathway
Physiological changes during exercise
Amino acid metabolism
Nitrogen and urea cycle
Fatty acid synthesis
Fatty acid oxidation
Ketone body metabolism
Cholesterol metabolism
Essential fructosuria
Hereditary fructose intolerance
Galactosemia
Pyruvate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Lactose intolerance
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Krabbe disease
Gaucher disease (NORD)
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Fabry disease (NORD)
Tay-Sachs disease (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Cystinosis
Hartnup disease
Alkaptonuria
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Cystinuria (NORD)
Homocystinuria
Maple syrup urine disease
Abetalipoproteinemia
Familial hypercholesterolemia
Hypertriglyceridemia
Hyperlipidemia
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
Disorders of amino acid metabolism: Pathology review
Carbohydrates and sugars
Fats and lipids
Proteins
Vitamin K deficiency
Vitamin D deficiency
Excess Vitamin A
Excess Vitamin D
Folate (Vitamin B9) deficiency
Niacin (Vitamin B3) deficiency
Vitamin B12 deficiency
Vitamin C deficiency
Wernicke-Korsakoff syndrome
Beriberi
Iodine deficiency
Zinc deficiency
Marasmus
Kwashiorkor
Fat-soluble vitamin deficiency and toxicity: Pathology review
Zinc deficiency and protein-energy malnutrition: Pathology review
Water-soluble vitamin deficiency and toxicity: B1-B7: Pathology review
Flashcards
Pyruvate dehydrogenase deficiency
0 of 9 complete
Key Takeaways
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.