Pyruvate dehydrogenase deficiency
1,125views
Pyruvate dehydrogenase deficiency
Biochemistry
Biochemistry and metabolism
Amino acid metabolism
Nitrogen and urea cycle
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Glycolysis
Pentose phosphate pathway
Physiological changes during exercise
Cholesterol metabolism
Fatty acid oxidation
Fatty acid synthesis
Ketone body metabolism
Metabolic disorders
Alkaptonuria
Cystinuria (NORD)
Hartnup disease
Homocystinuria
Maple syrup urine disease
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Essential fructosuria
Galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hereditary fructose intolerance
Lactose intolerance
Pyruvate dehydrogenase deficiency
Abetalipoproteinemia
Familial hypercholesterolemia
Hyperlipidemia
Hypertriglyceridemia
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
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Fabry disease (NORD)
Gaucher disease (NORD)
Krabbe disease
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Tay-Sachs disease (NORD)
Cystinosis
Disorders of amino acid metabolism: Pathology review
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
Assessments
Flashcards
0 / 9 complete
High Yield Notes
4 pages



Flashcards
Pyruvate dehydrogenase deficiency
0 of 9 complete
Summary
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.