Writing these down so when I inevitably come back. Thanks man!! 1. Von Gierke Disease- "Von Geek Disease" ---Lack of G-6-phosphatase - Hepatomegaly - Hyperlipidemia/ hyperuricemia (fat/protein catabolism) 2. Cori Disease- "Coral Disease" ---Lack of debranching enzyme (alpha-1,6-glucosidase) - Same symptoms as Von Gierke, but with abnormal glycogen structure 3. McArdle's- Muscle --- Lack of glycogen phosphorylase - Myoglobinuria - Muscle cramps on exertion 4. Her's- Hepatic --- Lack of glycogen phosphorylase - Hepatomegaly - Fasting hypoglycemia 5. Anderson Disease- "Anderson Cooper gets straight to the point" --- Lack of branching enzyme -Cirrhosis (fatal) 6. Pompe Disease- "Pompe affects the pump" -- Lack of debranching enzyme specific to lysosomes - Cardiomegaly
How is it ? Short cut simple hot Water base ( 1 spoon coffee +1 spoon cocoa+ 1spoon sugar it should be little bitter taste mm not sweet (dilute the old fatty acid glucose fructose branching enzyme repair any vital organs damage including incidence of scars wound++(lryny,esapagus lungs liver bile appendix abdomen kidney illium Blood vessels top is the brain cortex eye vessels spinal chor Youghurt garlic compound simple natural repair doctor do it your self ignorance is deadly
Hyperuricemia is due to increased conversion of Glucose 6 phosphate into prpp which Ultimately contribute to the increased production of the purines and the increased catabokism of purines leads to hyperuricemia that increases chances of gout
I remember something from uworld vaguely. It said that the increase in uric acid levels in VGD is due to build up of pyruvate that shunts to lactate. The increased lactate competes with the same transporter as that of uric acid. Hence its build up. On the other hand hypoglycemia stimulates epinephrine that activates lipoprotein lipase which then increases FFAs and TGs. Great video, thanks.
@@sleepytraveler369 Lactate is a organic anion, and is a counterion for uric acid at the URAT1 antiporter on the apical surface of the collecting duct; thus the more lactate secreted into the urine, more uric acid reabsorbed into the blood
glucose 6 phosphate that accumulates is diverted to pentose phosphate pathway increased synthesis of ribose phosphates increases the levels of phosphoribosyl pyrophosphates and enhance metabolism of purines...increases the uric acid..
This is correct but it has more to do with the metabolic knee-jerk reaction of shunting G-6-P into HMP shunt pathway, which leads to purine salvage and nucleotide synthesis (all of which require ↑uric acid production). Here is the algorithm: VGD = glucose 6 phosphate deficiency → ↑G-6-P SUBSTRATE accumulates → G-6-P enters HMP shunt pathway → ↑PRPP | NADPH production → PRPP used in nucleotide synthesis and salvage of adenine | hypoxanthine | guanine | thymine | uracil | orotate (but not cytosine) → ↑purines metabolized via xanthine oxidase → ↑hypoxanthine → ↑xanthine → ↑uric acid produced and subsequently consumed by macrophages → GOUT
I've always struggled with biochem and all of the pathways seemed to abstract when given in 1st year medicine school, but now I am getting used to them and it is all because of your amazing content! Thank you so much!
This was PERFECT, thank you. Except Anderson...I'm gonna have trouble associating Anderson with straight. I'm sure he'd love to see your Anderson slide lol
For Pompe Disease, the enzyme involved is acid alpha glucosidase. I remember this by the fact that Pompeiian (Mediterranean) diets include a lot of vinegar (acid). Plus, the fact that Pompeiians were killed pairs conveniently with the "-cide" sound in "glucosidase"
I have been following your channel since medschool. You are so amazing it's surprising 🥺 Thankyou for making these videos and especially for keeping them free 🥺💯
Hyperuricemia occurs due to phosphate sequestration (in G6P) which interferes with the conversion of AMP to ATP, so AMP is degraded (uric acid) and also due to hyperlactacidemia which interferes with the renal secretion of uric acid.
I feel like I am going to fly into the ceiling. I have tried so many ways to remember these diseases to no avail, somehow with your video it just clicks. you have the perfect mnemonics. THANK YOU!!!!
additional difference between Cori and Von Gierke is that Von Gierke results in severe fasting hypoglycemia, whereas Cori results in mild fasting hypoglycemia because gluconeogenesis is compromised in VG but not in Cori
One thing I want to clarify : Lacking of glucose-6-phosphatase can affect glycogenolysis and also gluconeogenesis because gluconeogenesis also involves this enzyme. Then, how does hyperuricemia happen if gluconeogenesis(breaking down of amino acid) is affected? Btw, excellent and straight-to-the-point explanation.
Debranching enzyme does NOT convert G-1-P to G-6-P, that is done by phosphoglucomutase. Instead, debranching enzyme participates in breaking down glycogen to G-1-P by breaking those 1,6 linkages.
Please correct me if I'm wrong, but I'm pretty sure there is a mistake in this video. I believe glycogen phosphorylase liberates free G1P until there are 4 glucose units remaining on the glycogen branch, then debranching enzymes have to come in and liberate the remaining G1P. Ultimately it is a different enzyme, phosphoglucomutase, that then yields G6P from the liberated G1P's. In this video, you say that debranching enzyme turns G1P into G6P.
COMBANK had a question on this. The question asked what we'd see after exercise, and the answer choices included both "hypoglycemia and myoglobinuria" and "increased serum creatine kinase and myoglobinuria." The correct answer was the increased serum creatine kinase, and the reasoning said that they wouldn't have hypoglycemia since the liver glycogen phosphorylase is still functional (even though the question specifically said after exercise).
Debranching enzyme does not convert glucose 6 phosphate to glucose 1 phosphate. Shouldn't that be the phosphoglucomutase???? At around the 7:00- to 8:00 Mark.
I think PUMPE disease is more related with lysosomes disfunction which can lead to (pump) enzymatic component of lysosomes to blood or nearby tissues then tissues damage occur . I don’t know why specifically cardiac muscle is the most effected but we can search about it .
Also a big difference between Von Gierke disease and Cori Disease is that Cori disease involves muscle hypotonia and weakness; whereas Von Gierke disease only involves the liver. Additionally, Cori disease predisposes patients to hepatic fibrosis due to the short chain glycogen molecule
Thanks This was excellent but debranching enzyme has multiple functions including adding part of the branches to the elongated glycogen chain for glycogen phosphorylase to chop down later on.
nice video, however... when you said coral reef is a branched sea plant was so cringe! It is not a plant! I am amazed no one commented this at least... cheers ;D
I don’t think there should be hypoglycemia (even exertional) in Mc Ardle as there is no glucose 6 phosphatase in muscles (as you mentioned in a previous video) so muscles normally don’t produce glucose to blood
the fact that I've been consistently getting biochem questions right over all other things when it is my god awful worst subject ever... i only have you to thank
Why don´t you talk about Taruis disease? That´s as well a glycogen storage disease. It´s simular to Mc Ardles but we doesn’t get the "second wind". I was diagnosed 1997 by Dr. Ronald Haller, he came to Sweden and took a biopsy of my muscles and did the diagnos, and he said that I just ha 1% of phsfofructokinas. Can you tell me more about my disease who that work, and it you know something that can help me. I´m in a wheelchair and can just walk sometimes 10 meters some summerdays when I’m stronger 100meters but sometimes it’s just a few steps I don’t get much help from my Swedish’s doctors. I have pain and spasms and inside cramps that comes when I try to do something. Please contact me if you can. I really desperate for help. / Regards Camilla
Carry epi-pens containing the enzymes you lack ? Or put the enzyme into a pill and take one every morning? Or just ditch the consumption of sugars/starches?
Goodwork dirty! But is there really hypoglycemia in Cori disease? FA says gluconeogenesis is intactwhich also explains normal LDH in cori unlike Von girk where both glycogenolysis and gluconeogenesis aren't working.
Awesome video, thank you! Also, wanted to clarify, First Aid notes that blood glucose levels are typically unaffected in McArdle's (pg 87, 2021 version). You mention that you will see hypoglycemia on exertion. Any comment?
The way I look at it is that if you are unable to mobilize glycogen stores in muscle, the muscle will fatigue on exertion, but I don’t think muscles ever release their own glucose stores into the blood stream normally….
Writing these down so when I inevitably come back. Thanks man!!
1. Von Gierke Disease- "Von Geek Disease"
---Lack of G-6-phosphatase
- Hepatomegaly
- Hyperlipidemia/ hyperuricemia (fat/protein catabolism)
2. Cori Disease- "Coral Disease"
---Lack of debranching enzyme (alpha-1,6-glucosidase)
- Same symptoms as Von Gierke, but with abnormal glycogen structure
3. McArdle's- Muscle
--- Lack of glycogen phosphorylase
- Myoglobinuria
- Muscle cramps on exertion
4. Her's- Hepatic
--- Lack of glycogen phosphorylase
- Hepatomegaly
- Fasting hypoglycemia
5. Anderson Disease- "Anderson Cooper gets straight to the point"
--- Lack of branching enzyme
-Cirrhosis (fatal)
6. Pompe Disease- "Pompe affects the pump"
-- Lack of debranching enzyme specific to lysosomes
- Cardiomegaly
Thnx alot 💐
U nailed it
copied thanks a lot
Great
good work highly appreciated
You can also memorise it as
A->B =Andersons Branching
C->D = Coris Debranching
Others
H and H = Hers for Hepatic
M and M = McArdles for Muscle
Yooo thanks for this!
This is so helpful
Ninja nerd 😄😄👍👍
Ninga Nerds here✋✋
@Brycen Timothy yeah no one gives a damn
You are officially MVP of the internet. You deserve a streamy.
How is it ? Short cut simple hot
Water base ( 1 spoon coffee +1 spoon cocoa+ 1spoon sugar it should be little bitter taste mm not sweet (dilute the old fatty acid glucose fructose branching enzyme repair any vital organs damage including incidence of scars wound++(lryny,esapagus lungs liver bile appendix abdomen kidney illium
Blood vessels top is the brain cortex eye vessels spinal chor
Youghurt garlic compound simple natural repair doctor do it your self ignorance is deadly
Hyperuricemia is due to increased conversion of Glucose 6 phosphate into prpp which Ultimately contribute to the increased production of the purines and the increased catabokism of purines leads to hyperuricemia that increases chances of gout
I remember something from uworld vaguely. It said that the increase in uric acid levels in VGD is due to build up of pyruvate that shunts to lactate. The increased lactate competes with the same transporter as that of uric acid. Hence its build up. On the other hand hypoglycemia stimulates epinephrine that activates lipoprotein lipase which then increases FFAs and TGs. Great video, thanks.
Thanks for that, I was kind of confused because I thought uric acid is from purine breakdown, not amino acids
@@sleepytraveler369 Lactate is a organic anion, and is a counterion for uric acid at the URAT1 antiporter on the apical surface of the collecting duct; thus the more lactate secreted into the urine, more uric acid reabsorbed into the blood
glucose 6 phosphate that accumulates is diverted to pentose phosphate pathway increased synthesis of ribose phosphates increases the levels of phosphoribosyl pyrophosphates and enhance metabolism of purines...increases the uric acid..
Great
This is correct but it has more to do with the metabolic knee-jerk reaction of shunting G-6-P into HMP shunt pathway, which leads to purine salvage and nucleotide synthesis (all of which require ↑uric acid production). Here is the algorithm:
VGD = glucose 6 phosphate deficiency → ↑G-6-P SUBSTRATE accumulates → G-6-P enters HMP shunt pathway → ↑PRPP | NADPH production → PRPP used in nucleotide synthesis and salvage of adenine | hypoxanthine | guanine | thymine | uracil | orotate (but not cytosine) → ↑purines metabolized via xanthine oxidase → ↑hypoxanthine → ↑xanthine → ↑uric acid produced and subsequently consumed by macrophages → GOUT
I've always struggled with biochem and all of the pathways seemed to abstract when given in 1st year medicine school, but now I am getting used to them and it is all because of your amazing content! Thank you so much!
I finally found the person who will get me to 260 in step 1. Thanks man. Not all heroes wear capes
@@michigan1085 good luck bro. I'm still in prep. I'm going for pass and fail
Thnk you
The only video on youtube regarding glycogen storage disease that you feel like listening
This is the best video about glycogen storage diseases. Thanks a lot!
This was PERFECT, thank you.
Except Anderson...I'm gonna have trouble associating Anderson with straight. I'm sure he'd love to see your Anderson slide lol
I know you’ve heard this a million times but you rock!!!!!
By far the best Glycogen storage disease lecture. Thank you👌
Thanks!
For Pompe Disease, the enzyme involved is acid alpha glucosidase. I remember this by the fact that Pompeiian (Mediterranean) diets include a lot of vinegar (acid). Plus, the fact that Pompeiians were killed pairs conveniently with the "-cide" sound in "glucosidase"
No explanation can be more helpful than this!!! Seriously a great job. Thank you so much...
I have been following your channel since medschool. You are so amazing it's surprising 🥺 Thankyou for making these videos and especially for keeping them free 🥺💯
Great job!!👍 You've been uploading all these videos together, all of them about the topics on my biochem test!!! Thank you,helped me a lot!💗
This guy is FANTASTIC!!!! I am impressed how he can transformer difficult things in very easy and understandable. Congratulations.
Hyperuricemia occurs due to phosphate sequestration (in G6P) which interferes with the conversion of AMP to ATP, so AMP is degraded (uric acid) and also due to hyperlactacidemia which interferes with the renal secretion of uric acid.
I feel like I am going to fly into the ceiling. I have tried so many ways to remember these diseases to no avail, somehow with your video it just clicks. you have the perfect mnemonics. THANK YOU!!!!
This is the best video on RUclips. Nothing comes close to it
This was the most helpful and summarised med video I've ever watched. Thank you so much. The hard work really paid off. ❤❤❤
The best explanation i saw for glycogen storage diseases thank you very much
You’re getting me through medical school man
Thankyou 👏🏿
Billy Odhiambo Fitness which year u in
Thank god you re-uploaded this! Just in time for my step 2. Thank you
additional difference between Cori and Von Gierke is that Von Gierke results in severe fasting hypoglycemia, whereas Cori results in mild fasting hypoglycemia because gluconeogenesis is compromised in VG but not in Cori
Not always true though. Please check your comment
One thing I want to clarify : Lacking of glucose-6-phosphatase can affect glycogenolysis and also gluconeogenesis because gluconeogenesis also involves this enzyme. Then, how does hyperuricemia happen if gluconeogenesis(breaking down of amino acid) is affected? Btw, excellent and straight-to-the-point explanation.
This is really high quality material man. Only a matter of time till your content blows up. Keep it up!
Debranching enzyme does NOT convert G-1-P to G-6-P, that is done by phosphoglucomutase. Instead, debranching enzyme participates in breaking down glycogen to G-1-P by breaking those 1,6 linkages.
same I was also thinking this
This really made the concepts so easy to understand. Thank you sir!
God loves you most! Thank you for the clarity!!!
Please correct me if I'm wrong, but I'm pretty sure there is a mistake in this video. I believe glycogen phosphorylase liberates free G1P until there are 4 glucose units remaining on the glycogen branch, then debranching enzymes have to come in and liberate the remaining G1P. Ultimately it is a different enzyme, phosphoglucomutase, that then yields G6P from the liberated G1P's. In this video, you say that debranching enzyme turns G1P into G6P.
Yeahh
👍
Exactly I thought the same way but I kinda slap my mind and said "HEY!! .. THIS PERSON KNOWS WHAT HE IS TALKING ABOUT U PEACE OF SH*T .....!"
So basically we only get glucose monomer from the branches of glycogen structure not from the linear structure?
Yes…straight up wrong
BRILLIANT!!! Thankk you so much you made that very easy to remember!
- Andersong is long
- Tus pompas make my heart hypertrophy (for spanish speakers)
thank you sooooo much you saved my pediatrics state exam!!!!!!
Sir you are a lifesaver! Biochem never felt this easy.. thank u soo much!!
You just saved my ass from failing this topic. I love you man.
COMBANK had a question on this. The question asked what we'd see after exercise, and the answer choices included both "hypoglycemia and myoglobinuria" and "increased serum creatine kinase and myoglobinuria." The correct answer was the increased serum creatine kinase, and the reasoning said that they wouldn't have hypoglycemia since the liver glycogen phosphorylase is still functional (even though the question specifically said after exercise).
Perfect, fabulous and excellent for ever. I need only one watch and it's fixed in my brain forever.
Absolute banger of a video. Really informative and well explained.
12:38 :"A super branched plant that lives in the sea"
Me: SPONGEBOB SQU.... wait no
Somehow this was really enjoyable to watch despite my hate for biochem. Thank you for distilling the info!!!!!!!!
im so happy i finally understand biochemistry, i could cry
Debranching enzyme does not convert glucose 6 phosphate to glucose 1 phosphate. Shouldn't that be the phosphoglucomutase???? At around the 7:00- to 8:00 Mark.
Best video ever seen ...with best tricks to learn👍👍👍
I think PUMPE disease is more related with lysosomes disfunction which can lead to (pump) enzymatic component of lysosomes to blood or nearby tissues then tissues damage occur .
I don’t know why specifically cardiac muscle is the most effected but we can search about it .
Who’s this savior of my life ily 😭❤️❤️
thank you good sir
and thank you to the visiting student on my peds rotation who turned me on to you
Also a big difference between Von Gierke disease and Cori Disease is that Cori disease involves muscle hypotonia and weakness; whereas Von Gierke disease only involves the liver. Additionally, Cori disease predisposes patients to hepatic fibrosis due to the short chain glycogen molecule
You have saved me in biochemistry sir, thanks 😊💗✌️
Anytime i was struggling with a topic...& u always had something to help..thank u❤️❤️
Thankssss a lot.Its my exam tomorrow.You are a life saviour.I wish we had teachers like you in university.
Thank you so much for making these videos man, i really appreciate your videos.
Thanks
This was excellent
but debranching enzyme has multiple functions including adding part of the branches to the elongated glycogen chain for glycogen phosphorylase to chop down later on.
I can’t express how amazing this is! Thank you, thank you that k you!!!!!
How do you differentiate von Gierke & Her's disease?
nice video, however... when you said coral reef is a branched sea plant was so cringe! It is not a plant! I am amazed no one commented this at least... cheers ;D
I came to the comments to see if anyone pointed this out, thank you haha
Thnx for making GSDs simple....I was literally going Mad with the topic
you're a lifesaver mister ❤❤
Excellent lectures on biochemistry. Thank you so much !
I don’t think there should be hypoglycemia (even exertional) in Mc Ardle as there is no glucose 6 phosphatase in muscles (as you mentioned in a previous video) so muscles normally don’t produce glucose to blood
Thank you so much. You did a great job.
glycogen by muscle isn't released outside it to be used by body right?
You killed it,man!!!! Mind blowing
this is great info, but keeping up with what your saying is near impossible. .. PLEASE slow down so we have time to put it all together. ty
This was a fantastic video. Props to you good sir.
Thank you a million times... may Allah help you just like you help us.
The debranching enzyme generates glucose residues while glycogen phosphorylase will generate glucose 1 phosphate.
fantastic illustration bro...looking forward to more from u
In glycogenesis you have two more enzymes glycogenin and branching enzyme
This went straight into the head ^_^
Thankyou so much for this!
You're a genius and a lifesaver! Thank you so much!!! God bless you. :)
That Anderson Cooper mnemonic was complete GOAT.
thanks mate. you are god sent. appreciate it.
Thanks Dirty.God bless you.
So easy !!! I struggled to remember these so much!! God bless u dirty
Life changing video❤❤❤
Great Presentation, Sir!
Thank you so much. Much appreciated !!
I love you man. thanks big time!
the fact that I've been consistently getting biochem questions right over all other things when it is my god awful worst subject ever... i only have you to thank
HUGE HUGE THANK YOU!!!
Why don´t you talk about Taruis disease? That´s as well a glycogen storage disease. It´s simular to Mc Ardles but we doesn’t get the "second wind". I was diagnosed 1997 by Dr. Ronald Haller, he came to Sweden and took a biopsy of my muscles and did the diagnos, and he said that I just ha 1% of phsfofructokinas. Can you tell me more about my disease who that work, and it you know something that can help me. I´m in a wheelchair and can just walk sometimes 10 meters some summerdays when I’m stronger 100meters but sometimes it’s just a few steps I don’t get much help from my Swedish’s doctors. I have pain and spasms and inside cramps that comes when I try to do something. Please contact me if you can. I really desperate for help. / Regards Camilla
Carry epi-pens containing the enzymes you lack ? Or put the enzyme into a pill and take one every morning? Or just ditch the consumption of sugars/starches?
Goodwork dirty! But is there really hypoglycemia in Cori disease? FA says gluconeogenesis is intactwhich also explains normal LDH in cori unlike Von girk where both glycogenolysis and gluconeogenesis aren't working.
Von gierke Von at last. last enzyme= glucose 6 phosphatase⬇️, inc glu-6-phos
Anderson--branching enzyme⬇️
Cori -- alpha 1,6 glucosidase debranching enzyme⬇️
pompe =debranching (alpha 1-6 Glucosidase) in lysozyme⬇️ (acid alpha- glucosidase)
Hers=hepatic gly phos, fasting hg
Mcardle=myophosphorylase⬇️ (muscle) gly phos , hg on exersion0
wonderful video, thank you so much!! i am preparing for Neurology broad exam, and I couldn't get through the metabolic disorders.
Great lecture 😊
thank you so much. best quality video
THANK YOU SO MUCH ❤❤❤❤❤❤❤
amazing video! easy to understand and review! Thank you 🙏🏻
amazing explanation! you are going to be a big reason i pass my boards
You are a life saver 🙏🏻🙏🏻🙏🏻
Thank you so much for your hard work!!!
in which part of the cell does glycogen synthesis occurs?
The irony of using Anderson cooper to recall something about staying "straight" is so delicious.
I thought the exact same thing 🤣
Awesome explaination
Awesome video, thank you! Also, wanted to clarify, First Aid notes that blood glucose levels are typically unaffected in McArdle's (pg 87, 2021 version). You mention that you will see hypoglycemia on exertion. Any comment?
The way I look at it is that if you are unable to mobilize glycogen stores in muscle, the muscle will fatigue on exertion, but I don’t think muscles ever release their own glucose stores into the blood stream normally….
unless specified - it is assumed blood work is recorded under controlled states. aberrant levels would only be effected under stress.
Awsome Content!
Made me laugh with the Anderson Cooper one, there's nothing straight about him! lol