Carbohydrate Diseases Flashcards
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
