Glycogen Storage Disease 109-111 Flashcards
What is the principle problem in Von Gierke’s Disease? Why? From that, what are the symptoms that it would manifest? Is glucagon and epi treatment effective?
Can’t get glucose out of the liver
Lack of glucose-6-phosphatase enzyme
Hypoglycemia, Increased glycogen in the liver, Increased lactate (anabolic reactions), Shunted as Triglycerides, Uric Acid
Fat Cheecks, Fat Liver (Hepatomegaly)
No
All Glycogen storage diseases are what type of genetics?
AR
Treatment for Von Gierke’s Disease?
Oral Glucose (maintain normal glucose with uncooked starch) Avoid fructose and galactose (decrease amount that the other pathways contribute to this)
Where is glycogen stored? (name 3) Where else is it also found in the fetus?
Skeletal muscle, cardiac muscle, Liver
Fetal Lung
What is the principle problem in Pompe’s Disease? Why? From that, what are the symptoms that it would manifest? Easy way to remember this disease?
Can’t break down glycogen
Do not have alpha 1,4 glucosidase (acid maltase)
Pompe trashes the pumps: Cardiac, Skeletal, Liver
Cardiomyopathy, Cardiomegaly, Exercise Intolerance
City of Pompe was killed early (infants die early)
What is the principle problem in Cori’s Disease? Why? How do you diagnose this disease? Is gluconeogenesis intact?
Can’t debranch glycogen=>can’t fully digest all the carbs
Do Not have alpha 1,6 glucosidase
Dx: short chain glycogen
gluconeogenesis is intact
Looks like a coral
What is the principle problem in McArdle’s Disease? Why? From that, what are the symptoms that it would manifest? Easy way to remember this disease?
Can’t break down Glycogen in the skeletal muscles
Missing Glycogen Phosphorylase (myophosphorylase)
Can’t supply muscle with energy=>ischemic=>creatinine kinase increased and myoglobinuria (red urine) during exercise
Glycogen not broken down=>no glucose=>lactic acid=>muscle cramps
“McCramp’s Disease”
How do you differentiate between McArdle’s disease and the other diseases? How do you treat it?
Normal Blood Glucose levels
B6
What is the principle problem in Krabbe’s Disease? Why? How do you diagnose this disease and what are some features?
Galactocerebrosidase deficiency
Globoid Cells
What is the principle problem in Tay-Sachs Disease? What builds up? How do you diagnose this disease and what are some features?
Hexosaminidase
GM2 ganglioside builds up
Onion skinning of lysosomes
No hepatosplenomegaly
What is the principle problem in Niemann-Pick’s Disease? What builds up? How do you diagnose this disease and what are some features?
Sphingomyelinase
Spingomyelin increased (Sphinger like finger to pick your nose)
Hepatosplenomegaly
What is the principle problem in Gaucher (Bro) Disease? What builds up? How do you diagnose this disease and what are some features?
GlucocereBROsidase (β-glucosidase)
GlucocereBROside
Erlenmeyer flask lesions-found in the long bones
Gaucher cells: lipid-laden macrophages resembling crumpled tissue paper
What is the principle problem in Fabry Disease? What builds up? How do you diagnose this disease and what are some features?
Ceramide trihexoside
α-galactosidase
X-linked recessive
What two diseases are x-linked recessive lysosomal storage diseases? Everything is?
Fabry
Hunter
Autosomal recessive
What is the principle problem in Hunter Disease? What builds up? How do you diagnose this disease and what are some features?
Iduronate sulfatase
Heparan sulfate, dermatan sulfate
No corneal clouding
