Carbohydrates Flashcards
(22 cards)
Enzyme defect in glycolysis that causes
CHRONIC HEMOLYTIC ANEMIA
Pyruvate Kinase Deficiency
Inhibits pyruvate dehydrogenase and binds to lipoic acid
competes with inorganic phosphate as substrate for glyceraldehyde 3-p- dehydrogenase
Arsenic Poisoning (Pentavalent)
Low exercise capacity, particularly on high carbohydrate diet
Muscle Phosphofructokinase Deficiency
X linked dominant
Congenital lactic acidosis
Increase lactate
Decease acetyl CoA
Pyruvate Dehydrogenase Deficiency
Acquired PYRUVATE DEHYDROGENASE deficiency that leads to fatal pyruvic and lactic acidosis
Chronic alcoholism
High amount of NADH is formed by what (2) enzymes
Alcohol dehydrogenase
Acetaldehyde dehydrogenase
High amounts of NADH favor what (3) reactions
pyruvate to lactate
oaa to malate
DHAP to glycerol-3-p
Glucose 6 phosphatase deficiency
Von gierke
Acid maltase deficiency
Pompe
Debranching enzyme defiency
Cori’s
Skeletal muscle glycogen phosphorylase defiency
Mc Ardles
Branching enzyme deficiency
Andersen’s
Disease Findings:
Glycogen: liver and renal cell
Hypoglycemia, hepatomegaly, lactic acidosis
VON GIERKE
Disease Findings:
Glycogen: lysosomes
Cardiomegaly and heart failure
Pompe
Disease Findings:
Glycogen: muscle
Myoglobinuria but no lactic acidosis
Mc ardle’s
Galactose 1-puridyltransferase deficience
Classic Galactosemia
Child manifest with galactosemia and galactosuria only in early childhood
Galactokinase Deficiency
Aldolase B deficiency
Fructose intolerance
Child with fructose in blood and urine
Essential fructokinase
Child manifest with severe hypoglycemia and lactic acidosis with proximal renal tube disorder resembling Fanconi Syndrome
Fructose intolerance ( Aldolase B Deficiency)
Most common disease producing enzyme abnormality in humans
G6PD Deficiency
Most common cause of G6PD
Infection
