Please enable JavaScript.
Coggle requires JavaScript to display documents.
Genetic Disorders - Gycogen Storage Disorders (*GLYCOGEN structure and…
Genetic Disorders - Gycogen Storage Disorders
*Glycogen Storage Diseases
"Very Poor Carbohydrate Metabolism"
Von Gierke Disease
--> glucose - 6 - phosphate deficient
Pompe Disease
--> lysosomal enzyme deficient
Cori Disease
--> Cori is milder form of Von Gierke
--> debranching ezyme deficient
McArdle Disease
--> myoglycogen phosphorylase enzyme deficient
PERIODIC acid SCHIFF STAIN
--> way to stain glycogen to see if it is abnormally stored in the liver / heart / muscle
TYPE 1 glycogen disease = *Von Gierke Disease
glucose - 6 - phosphate deficient
Von GGierke = glucose 6 phosphate = Glycogen build up = Gout
VG has high uricemia = gout
high lactate and triglycerides
VON V FORK GLUCOSE and VON V FORK CORI
VON V FORK/ GLUCOSE = V FORK (of glycogen) / GLUCONEOGENESIS (problem)
VON V FORK = V FORK (of glycogen)
VON V FORK
GLUCONEOGENISIS
= gluconeogenesis is the problem
--> Glucose 6 phosphatase is blocked
--> can't release the glucose from glycogen
--> glycogen stores up in the liver
EVERYTHING goes UP in VON V FORK GLUCONEOGENESIS
--> hepatomegaly
--> lactate levels
--> GOUT / uric acid
VON V FORK / CORI CUTTING = V FORK (of glycogen) / CUTTING (problem of CUTTING the V FORK alpha1-6)
VON V FORK = Glycogen V FORKS don't break down
VON V FORK CORI is milder form of VON V FORK GLUCONEOGENESIS
--> still have the gluconeogenesis with G6 phosphatase
--> can't debranch the glycogen
you have NORMAL LACTATE levels
TYPE 2 glycogen disease = *Pompe Disease
lysosyme alpha1,4-glycosylase enzyme deficient
POMPE disease is the LYSOSOME PUMPS affect the PUMP = heart = cardiomegaly
--> lysosomes accumulate with glycogen
--> can't desstroy them and PUMP them out
--> acid - glucosidase makes the acidity in lysosomes to break down glycogen
--> causes cardiomegaly
PUMP disease hurts the PUMP + 4 THINGS by stores the alpha 4 ROWS
PUMP + 4 THINGS
PUMP = heart
liver
muscle
exercise intolerance from the muscle
alpha 4 ROWS
can break the glycogen and put into LYSOSOMES
but this is worse since the
4 ROWS
can't be broken down and just stay there
TYPE 3 glycogen disease = *Cori Disease = milder / CORRECTED from of TYPE 1 Von GIERKE
lysosyme alpha1,4-glycosylase enzyme deficient
Cori = Milder Von Gierke with normal lactate levels
note this is milder since it can still use the lysosomal pathway to get around the CORI pathway
THE STORAGE problem at VON CORAL REEF in teh CYTOPLASM when the AFRO DIVER VON CORAL CUTTER can't CUT the VON V FORKS of the GLYCOGEN int he liver CORAL
AFRO DIVER VON CORAL CUTTER can't CUT the VON V FORKS
--> AFRO 1-6 VON V Fork branches of the GLYCOGEN TREE under water
THE VON CORAL REEF all HAPPENS underwater in the CYTOPLASM and ACCUMULATES the remainders of the GLYCOGEN that can't be CUT off = LIMIT DESK DEXTRINS
LIMIT DESK DEXTRINS in the CYTOPLAS = underwater at VON V FORK CORAL REEF
Above water on the beach, everything SEEMS NORMAL
because the gluconeogenesis GLUE GENIE is STILL WORKING is keeping everyone happy by making them FULL with high LFT drinks
gluconeogenesis GLUE GENIE is STILL WORKING in CORAL REEF
he makes people FULL with high LFT drinks
VON CORAL REEF has high LFTs since it is taking lactic acid and using it to go up in the metabolism map to make GLUCOSE
there is something wrong in the CYTOPLASM of CORAL REEF due to the collecting LIMIT DEXTRINS underwater because swimming babies keep going missing when they SWIM out in the CYTPLASM at CORAL REEF
they drown and become DEAD and FLOPPY BABIES with no TONE drown, but they are LIFTED up out of the WATER by CALVIN KLEIN
HYPOREFLEXES and FLOPPY BABY are signs of VON V FORK CORAL REEF
the CALVIN KLEIN MODEL who is swimming in the water at CORAL REEF BEACH is the one who sounds the ALARM because he notices the DEAD FLOPPY and LOW TONE babies drowning from the LIMIT DESKS underwater --> his MUSCLES start to break down to trying to tie LARGE FLOATING LIVERS to bring the DEAD FLOPPY BABIES back up to the surface
in VON V FORK CORAL REEF the CALVIN KLEIN CREATINE KINASE levels are raised since
this is due to muscle breaking down to feed the body with energy
MUSCLE BREAKDOWN becomes the way that the body compensates for energy in VON V FORK CORAL REEF BEACH disease
Tx in CORAL REEF CYTOPLASM BEECH is for environmental activists to make an INFINITE FEEDING TUBE where they dump endless PROTEIN INTO the FEEDING TUBE of the CORAL REEF BEECH to
tx = constant feeding for VON V FORK CORAL REEF sydnrome
--> INFINITY FEEDING GASTRIC TUBE
high protein diet to stop the CALVIN KLEIN swimming model GUY from having to tie BALLOON LIVERS to the babies to bring them up from drowning in the CYTOPLASM collecting LIMIT DESKS DEXTRINS
VON V FORK GLUCOSE and VON V FORK CORI
VON V FORK/ GLUCOSE = V FORK (of glycogen) / GLUCONEOGENESIS (problem)
VON V FORK = V FORK (of glycogen)
VON V FORK
GLUCONEOGENISIS
= gluconeogenesis is the problem
--> Glucose 6 phosphatase is blocked
--> can't release the glucose from glycogen
--> glycogen stores up in the liver
EVERYTHING goes UP in VON V FORK GLUCONEOGENESIS
--> hepatomegaly
--> lactate levels
--> GOUT / uric acid
VON V FORK / CORI CUTTING = V FORK (of glycogen) / CUTTING (problem of CUTTING the V FORK alpha1-6)
VON V FORK = Glycogen V FORKS don't break down
VON V FORK CORI is milder form of VON V FORK GLUCONEOGENESIS
--> still have the gluconeogenesis with G6 phosphatase
--> can't debranch the glycogen
you have NORMAL LACTATE levels
*Anderson's Disease
lack the BRANCHING enzyme for glycogen
--> thus get toxic long and straight Glycogen stored in the liver
--> this is fatal and causes cirrhosis of the liver
Anderson Cooper Disease
STRAIGHT to the POINT
--> Anderson's Disease can't branch the glycogen
--> thus get toxic long and straight Glycogen stored in the liver
--> this is fatal and causes cirrhosis of the liver
McARDLEs = muscle
McARDLEs = PISSING out DEAD MUSCLE CELLS
HERs = hepatic
hepatic glucose = maintains the baseline glucose everyday
--> reason in HERs you get fasting hypo glucose
--> where McArdles is on exertion
*HERS Disease
HERs = hepatic form of McARDLES disease
hepatic glucose = maintains the baseline glucose everyday
--> reason in HERs you get fasting hypo glucose
--> where McArdles is on exertion
TYPE 5 glycogen disease = *McArdle Disease
myoglycogen phosphorylase enzyme deficient
--> specific isozyme of the liver glycogen phosphorylase that is found in the muscles = MYO --> for storing muscle glycogen
presents with exercise intolerance
can be treated with simple sugars = glucose before exercising
McArdle = MYO = Muscle cramps = myoglobinuria
MYOGLOBUNURIA PEE from McARNOLD peeing out the MAYO from GLOBAL GYM
McARDLE triple M big MAC
M1 =
MUSCLE
ONLY glycogen
--> MUSCLE CRAMPS that are PAINFUL
M2 =
MYO phosphorylase
can't break down the glycogen
M3 =
MYOGLBINURIA
--> released from the damaged muscle mypglobin
SECOND WIND from liver + BLOOD GLUCOSE levels are NORMAL
since it is only the muscles that are affected
the liver can still supply enough glucose to the muscles
you get MUSCLE PAINS only at first
you get a SECOND WIND during exercise since the liver kicks in to give your muscles more glucose
1 more item...
*GLYCOGEN structure and synthesis
ALL glycogen linkages happen at the 1 CARBON site
think that the FORKS of the Glycogen trees are at the TOPS of the GLUCOSE molecule
-->
FORKS
of GLYCOGEN TREE =
α(1-6)
carbon links
think that the STRAIGHT BRANCHES of the Glycogen trees lay the glycogen in ROWS
-->
STRAIGHT ROW
BRANCHES of GLYCOGEN TREE =
α(1-4)
carbon links
*DIRTY USMLE Glycogen and SDs
first add alpha 1,4 links to make long chains of glycogen
4 and 4 rule
alpha 1,4 links get too long
--> need to add branches
--> add 1,6 alpha linkages
Glycogen Built and stored in Liver and Muscle
controlled now by the rate limiting enzymes
--> these are regulated by INSLUIN and the GEcAMP
Glycogen EXIT and release from Liver and Muscle
GEcAMP
--> increases glycogen phosphorylase
regulation of the 2 rate limiting step enzymes
glycogen SYNTHASE
Insuin
glycogen Phosphorylase = GEt cAMP
Glucagon
Epi
cAMP
