Carbohydrate Diseases Flashcards

1
Q

Fanconi Bickle syndrome

A

deficient GLUT2
won’t allow glucose, fructose, galactose to enter or exit
FTT, hepatomegaly, tubular nephropathy, and bloating, resistant rickets

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2
Q

Tarui disease

A

Deficiency in PFK-1 (Glycolysis)

exercise-induced muscle cramps and weakness, hemolytic anemia, high bilirubin and jaundice

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3
Q

F1,6BP deficiency

A

(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

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4
Q

Galactosemia Type I: Classic

A

deficiency in glucose 1P uridyltransferase (GALT), leads to the accumulation of galactitol
• Liver failure, sepsis, bleeding, failure to thrive
• Juvenile cataracts

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5
Q

Galactosemia Type II: Nonclassical

A

galactokinase deficiency so galactose cant be phosphorylated
Buildup of galactitol- cataracts

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6
Q

GSD 0

A

Deficiency in glycogen synthase
cannot synthesize and store glycogen
Vulnerable to hypoglycemia when fasting, have muscle cramps, need to eat frequently

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7
Q

GSDI/Von Gierke disease

A

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

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8
Q

GSDII/Pompe

A

deficiency in acid maltase or acid-a-glucosidase
Impairs lysosomal glycogenolysis
cardiomyopathy (mortality)

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9
Q

GSDIII/Cori

A

deficient in a-1,6-glucosidase (debranching enzyme).
Lots of short branches
light hypoglycemia and hepatomegaly

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10
Q

GSD IV/Andersen Disease

A

deficiency in glucosyl (4:6) transferase (branching enzyme)
long linear chain
hepatosplenomegaly and cirrhosis

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11
Q

GSD V/McArdle Disease

A

deficiency in muscle glycogen phosphorylase
RLS of breakdown
Unable to supply muscles with enough glucose
weakness, fatigue, muscle cramping, myoglobinuria

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12
Q

GSDVI/Hers disease

A

Deficiency in liver glycogen phosphorylase.

Prevents glycogen breakdown in liver, hence it accumulates in liver. Hepatomegaly and low BG levels

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