Carbohydrate Diseases Flashcards
(12 cards)
Fanconi Bickle syndrome
deficient GLUT2
won’t allow glucose, fructose, galactose to enter or exit
FTT, hepatomegaly, tubular nephropathy, and bloating, resistant rickets
Tarui disease
Deficiency in PFK-1 (Glycolysis)
exercise-induced muscle cramps and weakness, hemolytic anemia, high bilirubin and jaundice
F1,6BP deficiency
(rate limiting enzyme- Gluconeogenesis)
Presents in infancy or early childhood with hypoglycemia, lactic acidosis, ketosis, apnea, and hyperventilation triggered by fasting or ingestion of fructose, glycerol, or sorbitol
Galactosemia Type I: Classic
deficiency in glucose 1P uridyltransferase (GALT), leads to the accumulation of galactitol
• Liver failure, sepsis, bleeding, failure to thrive
• Juvenile cataracts
Galactosemia Type II: Nonclassical
galactokinase deficiency so galactose cant be phosphorylated
Buildup of galactitol- cataracts
GSD 0
Deficiency in glycogen synthase
cannot synthesize and store glycogen
Vulnerable to hypoglycemia when fasting, have muscle cramps, need to eat frequently
GSDI/Von Gierke disease
Deficiency in glucose-6-phosphatase.
conversion of g-6-P to glucose (gluconeogenesis)
Fasting hypoglycemia, lactic acidosis, hepatomegaly due to buildup of glycogen, hyperlipidemia and potentially retarded growth
GSDII/Pompe
deficiency in acid maltase or acid-a-glucosidase
Impairs lysosomal glycogenolysis
cardiomyopathy (mortality)
GSDIII/Cori
deficient in a-1,6-glucosidase (debranching enzyme).
Lots of short branches
light hypoglycemia and hepatomegaly
GSD IV/Andersen Disease
deficiency in glucosyl (4:6) transferase (branching enzyme)
long linear chain
hepatosplenomegaly and cirrhosis
GSD V/McArdle Disease
deficiency in muscle glycogen phosphorylase
RLS of breakdown
Unable to supply muscles with enough glucose
weakness, fatigue, muscle cramping, myoglobinuria
GSDVI/Hers disease
Deficiency in liver glycogen phosphorylase.
Prevents glycogen breakdown in liver, hence it accumulates in liver. Hepatomegaly and low BG levels
