Glycogen Storage Diseases
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- čas přidán 25. 08. 2024
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My goal is to reduce educational disparities by making education FREE.
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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
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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
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
There are some important factual errors or omissions in this video.
Debranching enzyme does not convert glucose-1-p to glucose-6-p. Only one branching enzyme (alpha-1,6-glucosidase) releases glucose directly from a debranched collaged.
Some other points.
Von Gierke's causes:
* Lactic acidosis as a consequence of pyruvate accumulation in impaired gluconeogeneis
* Gout secondary to high glucose 6 phosphate / HMP shunt
Cori Disease findings:
* No lactic acidosis (again important in differentiating GSD)
* Presence of cardiomyopathy (secondary to abnormal glycogen accumulation)
Pompe Disease:
* No lactic acidosis
* Cardiomyopathy (not cardiomegaly, secondary to accumulation of glycogen)
* macroglossia (differentiated from Cori Disease)
McArdle Disease:
* Lactate in blood but flat venous curve (differentiated from Von Gierke)
Debranching enzymes --> cardiomyopathy, differentiated by macroglossia
first aid mentions cardiomyopathy and cardiomegaly for Pompe disease
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
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'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!
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 know you’ve heard this a million times but you rock!!!!!
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!💗
Thnk you
The only video on youtube regarding glycogen storage disease that you feel like listening
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
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 🥺💯
No explanation can be more helpful than this!!! Seriously a great job. Thank you so much...
Thank god you re-uploaded this! Just in time for my step 2. Thank you
You’re getting me through medical school man
Thankyou 👏🏿
Billy Odhiambo Fitness which year u in
This guy is FANTASTIC!!!! I am impressed how he can transformer difficult things in very easy and understandable. Congratulations.
This was the most helpful and summarised med video I've ever watched. Thank you so much. The hard work really paid off. ❤❤❤
This is really high quality material man. Only a matter of time till your content blows up. Keep it up!
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!!!!
1, 4 straight out the door; 1, 6 branching with sticks
This is the best video about glycogen storage diseases. Thanks a lot!
- Andersong is long
- Tus pompas make my heart hypertrophy (for spanish speakers)
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
This really made the concepts so easy to understand. Thank you sir!
This is the best video on CZcams. Nothing comes close to it
BRILLIANT!!! Thankk you so much you made that very easy to remember!
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.
same I was also thinking this
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.
im so happy i finally understand biochemistry, i could cry
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.
Absolute banger of a video. Really informative and well explained.
The best explanation i saw for glycogen storage diseases thank you very much
The irony of using Anderson cooper to recall something about staying "straight" is so delicious.
I thought the exact same thing 🤣
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).
thank you sooooo much you saved my pediatrics state exam!!!!!!
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
thank you good sir
and thank you to the visiting student on my peds rotation who turned me on to you
12:38 :"A super branched plant that lives in the sea"
Me: SPONGEBOB SQU.... wait no
Perfect, fabulous and excellent for ever. I need only one watch and it's fixed in my brain forever.
Somehow this was really enjoyable to watch despite my hate for biochem. Thank you for distilling the info!!!!!!!!
That Anderson Cooper mnemonic was complete GOAT.
Thankssss a lot.Its my exam tomorrow.You are a life saviour.I wish we had teachers like you in university.
God loves you most! Thank you for the clarity!!!
You have saved me in biochemistry sir, thanks 😊💗✌️
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
Thank you so much for making these videos man, i really appreciate your videos.
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
Excellent lectures on biochemistry. Thank you so much !
"The Cori Tree can't lose it's branches" is another way to remember Cori Disease!
Best video ever seen ...with best tricks to learn👍👍👍
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.
Thnx for making GSDs simple....I was literally going Mad with the topic
How do you differentiate von Gierke & Her's disease?
THis was great, thank 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
I can’t express how amazing this is! Thank you, thank you that k you!!!!!
A->B C-D is easier for me. Andersen- Branching, Cory - Debranching
fantastic illustration bro...looking forward to more from u
This went straight into the head ^_^
Thankyou so much for this!
Thank you a million times... may Allah help you just like you help us.
I love you man. thanks big time!
Who’s this savior of my life ily 😭❤️❤️
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
amazing video! easy to understand and review! Thank you 🙏🏻
Best best best video ever
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 .
Anytime i was struggling with a topic...& u always had something to help..thank u❤️❤️
Thank you so much. You did a great job.
This part in fa-general principles gives me so much anxiety because of the damn debranching enzymes and what the hell is limit dextrin? Oh gawd
In glycogenesis you have two more enzymes glycogenin and branching enzyme
Great Presentation, Sir!
wonderful video, thank you so much!! i am preparing for Neurology broad exam, and I couldn't get through the metabolic disorders.
Very informative and easy to understand! Thank you
glycogen by muscle isn't released outside it to be used by body right?
Great crash course on the topic, thanks!
Thank you so much. Much appreciated !!
Awsome Content!
Made me laugh with the Anderson Cooper one, there's nothing straight about him! lol
I do thank you a lot, I'm from Egypt, and also do some mnemonics related to Arab culture , but in time of exams, yours save me really😂
I've always memorized Cori Disease as Corgi Disease because it's easy for me to think about a corgi trying (and failing) to play fetch with branches!
You can also remember Anderson disease with Mr. Anderson (aka Neo) in the Matrix, where he always wears a long and straight black coat.
amazing explanation! you are going to be a big reason i pass my boards
So easy !!! I struggled to remember these so much!! God bless u dirty
Great lecture 😊
I love your videos and mnemonics. Thank you!!!!!!!!
Uuhhhhmmm I really appreciate that the questions I had have been answered by the comments🎉
thanks mate. you are god sent. appreciate it.
This was a fantastic video. Props to you good sir.
Me in my mind every time I watch Dr. Dirty Medicine: "I didn't know you could fall in love with someone over and over again like this."
Thank you so much for your hard work!!!
Couldn’t get easier than this! Thank you 😊
The debranching enzyme generates glucose residues while glycogen phosphorylase will generate glucose 1 phosphate.
amazing, God bless you
You're a genius and a lifesaver! Thank you so much!!! God bless you. :)
you're a lifesaver mister ❤❤