(Solved ) USMLE Lysosomal Storage Diseases:
Questions & Answers: Updated
what is a good way to remember the 4 types of glycogen storage diseases we need
to know - ANSWERVery Poor Carbohydrate Metabolism
Von Gierke Disease
Pompe Disease
Cori Disease
McArdle Disease
what type is Von Gierke Disease - ANSWERType I
what type is Pompe Disease - ANSWERType II
what type is Cori Disease - ANSWERType III
what type is McArdle Disease - ANSWERType V
what is the enzyme deficiency in Von Gierke DIsease - ANSWERglucose 6
phosphatase
what are all the findings with Von Gierke Disease - ANSWERsevere fasting
hypoglycemia
increased glycogen in liver
increased blood lactate
increased triglycerides
increased uric acid
hepatomegaly
what is the inheritance of Von Gierke Disease - ANSWERautosomal recessive
how do you treat Von Gierke Disease - ANSWERfrequent oral glucose/cornstarch
avoid fructose & galactose
what is the enzyme that is deficient in Pompe disease - ANSWERlyosomal alpha-1,4-
glucosidase (aka acid maltase)
what are the findings in Pompe disease - ANSWERcardiomegaly
hypertrophic cardiomyopathy
exercise intolerance
systemic findings leading to early death
what is the inheritance of Pompe disease - ANSWERautosomal recessive
what is a good way to remember that Pompe disease affects the heart -
ANSWERPompe trashes the Pump
, (heart, liver, and muscle)
what is the enzyme deficiency in Cori Disease - ANSWERdebranching enzyme (aka
alpha-1,6-glucosidase)
what is the inheritance of Cori Disease - ANSWERautosomal recessive
how does glucose look like in Cori Disease - ANSWERintact gluconeogenesis
(decreased blood glucose levels-not as extreme as type I)
what are the findings of Cori Disease - ANSWERmilder form of Type I with normal
blood lactate levels
what is the enzyme deficient in McArdle Disease - ANSWERskeletal muscle glycogen
phosphorylase (aka myophosphorylase)
what are the findings with McArdle Disease - ANSWER-increased glycogen in muscle
(but it can't break it down)
painful muscle cramps
-myoglobinuria (red urine) with strenuous exercise
-arrhythmia from electrolyte abnormalities
what is the inheritance for McArdle Disease - ANSWERautosomal recessive
how are the blood glucose levels in McArdle Disease - ANSWERunaffected
how can you remember that McArdle Disease is a muscle disease -
ANSWERMcardle=Muscle
how do you treat McArdle Disease - ANSWERvitamin B6
what are all the lysosomal storage diseases - ANSWER-Sphingolipidoses
Fabry disease
Gaucher disease
Niemann-Pick disease
Tay-Sachs disease
Krabbe disease
Metachromatic leukodystrophy
-Mucopolysaccharidoses
Hurler syndrome
Hunter syndrome
what accumulates in Fabry disease - ANSWERceramide trihexoside
what is the deficiency enzyme in Fabry disease - ANSWERalpha-galactosidase A
Questions & Answers: Updated
what is a good way to remember the 4 types of glycogen storage diseases we need
to know - ANSWERVery Poor Carbohydrate Metabolism
Von Gierke Disease
Pompe Disease
Cori Disease
McArdle Disease
what type is Von Gierke Disease - ANSWERType I
what type is Pompe Disease - ANSWERType II
what type is Cori Disease - ANSWERType III
what type is McArdle Disease - ANSWERType V
what is the enzyme deficiency in Von Gierke DIsease - ANSWERglucose 6
phosphatase
what are all the findings with Von Gierke Disease - ANSWERsevere fasting
hypoglycemia
increased glycogen in liver
increased blood lactate
increased triglycerides
increased uric acid
hepatomegaly
what is the inheritance of Von Gierke Disease - ANSWERautosomal recessive
how do you treat Von Gierke Disease - ANSWERfrequent oral glucose/cornstarch
avoid fructose & galactose
what is the enzyme that is deficient in Pompe disease - ANSWERlyosomal alpha-1,4-
glucosidase (aka acid maltase)
what are the findings in Pompe disease - ANSWERcardiomegaly
hypertrophic cardiomyopathy
exercise intolerance
systemic findings leading to early death
what is the inheritance of Pompe disease - ANSWERautosomal recessive
what is a good way to remember that Pompe disease affects the heart -
ANSWERPompe trashes the Pump
, (heart, liver, and muscle)
what is the enzyme deficiency in Cori Disease - ANSWERdebranching enzyme (aka
alpha-1,6-glucosidase)
what is the inheritance of Cori Disease - ANSWERautosomal recessive
how does glucose look like in Cori Disease - ANSWERintact gluconeogenesis
(decreased blood glucose levels-not as extreme as type I)
what are the findings of Cori Disease - ANSWERmilder form of Type I with normal
blood lactate levels
what is the enzyme deficient in McArdle Disease - ANSWERskeletal muscle glycogen
phosphorylase (aka myophosphorylase)
what are the findings with McArdle Disease - ANSWER-increased glycogen in muscle
(but it can't break it down)
painful muscle cramps
-myoglobinuria (red urine) with strenuous exercise
-arrhythmia from electrolyte abnormalities
what is the inheritance for McArdle Disease - ANSWERautosomal recessive
how are the blood glucose levels in McArdle Disease - ANSWERunaffected
how can you remember that McArdle Disease is a muscle disease -
ANSWERMcardle=Muscle
how do you treat McArdle Disease - ANSWERvitamin B6
what are all the lysosomal storage diseases - ANSWER-Sphingolipidoses
Fabry disease
Gaucher disease
Niemann-Pick disease
Tay-Sachs disease
Krabbe disease
Metachromatic leukodystrophy
-Mucopolysaccharidoses
Hurler syndrome
Hunter syndrome
what accumulates in Fabry disease - ANSWERceramide trihexoside
what is the deficiency enzyme in Fabry disease - ANSWERalpha-galactosidase A
