Glycogen Storage Diseases

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  • Опубликовано: 22 ноя 2024

Комментарии • 314

  • @grizzlieplyr5221
    @grizzlieplyr5221 4 года назад +637

    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

  • @waqasashraf6552
    @waqasashraf6552 4 года назад +477

    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

  • @cassiemorgan8898
    @cassiemorgan8898 5 лет назад +244

    You are officially MVP of the internet. You deserve a streamy.

    • @robertobobby7646
      @robertobobby7646 2 года назад

      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

  • @memersharma1551
    @memersharma1551 4 года назад +21

    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

  • @DraakMD
    @DraakMD 4 года назад +60

    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
      @sleepytraveler369 3 года назад +5

      Thanks for that, I was kind of confused because I thought uric acid is from purine breakdown, not amino acids

    • @coolabe87
      @coolabe87 2 года назад +5

      @@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

    • @11ramyatulsitejasria42
      @11ramyatulsitejasria42 Год назад +4

      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..

    • @hi-this-is-stephen
      @hi-this-is-stephen Год назад

      Great

    • @bronxbomma718
      @bronxbomma718 11 месяцев назад +1

      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

  • @fromahappy5536
    @fromahappy5536 3 года назад +5

    I finally found the person who will get me to 260 in step 1. Thanks man. Not all heroes wear capes

    • @fromahappy5536
      @fromahappy5536 3 года назад +1

      @@michigan1085 good luck bro. I'm still in prep. I'm going for pass and fail

  • @kevonmccurdy3098
    @kevonmccurdy3098 2 месяца назад +2

    By far the best Glycogen storage disease lecture. Thank you👌

  • @MerrBusra
    @MerrBusra 5 месяцев назад +2

    This is the best video about glycogen storage diseases. Thanks a lot!

  • @asmaa.rahman6100
    @asmaa.rahman6100 4 года назад +3

    Thnk you
    The only video on youtube regarding glycogen storage disease that you feel like listening

  • @mellnick6838
    @mellnick6838 Год назад +8

    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!

  • @jaxsenball8901
    @jaxsenball8901 3 года назад +14

    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

  • @maximumovermuslim6337
    @maximumovermuslim6337 3 года назад +24

    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"

  • @AlanaOkun
    @AlanaOkun 3 месяца назад

    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!!!!

  • @meowmeowgirliecow
    @meowmeowgirliecow 10 месяцев назад +49

    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.

    • @issacgeorgy8289
      @issacgeorgy8289 8 месяцев назад +1

      Yeahh

    • @waleedsiddique7043
      @waleedsiddique7043 5 месяцев назад +1

      👍

    • @Ramy-Remedy
      @Ramy-Remedy 5 месяцев назад +3

      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 .....!"

    • @muhammadmujtaba785
      @muhammadmujtaba785 5 месяцев назад +2

      So basically we only get glucose monomer from the branches of glycogen structure not from the linear structure?

    • @alanharris7878
      @alanharris7878 3 месяца назад +1

      Yes…straight up wrong

  • @hinawajid1575
    @hinawajid1575 3 года назад +4

    No explanation can be more helpful than this!!! Seriously a great job. Thank you so much...

  • @jagmeetsingh01
    @jagmeetsingh01 2 года назад +3

    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

    • @ailsaarthur1363
      @ailsaarthur1363 2 года назад

      Not always true though. Please check your comment

  • @Moali-ys8vy
    @Moali-ys8vy Год назад

    The best explanation i saw for glycogen storage diseases thank you very much

  • @sohniya7681
    @sohniya7681 5 лет назад +10

    I know you’ve heard this a million times but you rock!!!!!

  • @kaitlinsears1767
    @kaitlinsears1767 4 месяца назад

    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).

  • @aquadaughterofwater
    @aquadaughterofwater Год назад

    im so happy i finally understand biochemistry, i could cry

  • @ananyajha9931
    @ananyajha9931 2 года назад +5

    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 🥺💯

  • @arslanahmed6295
    @arslanahmed6295 10 месяцев назад

    This is the best video on RUclips. Nothing comes close to it

  • @fernandonateros6989
    @fernandonateros6989 3 года назад +1

    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.

  • @giceliacarvalho7457
    @giceliacarvalho7457 4 года назад +8

    This guy is FANTASTIC!!!! I am impressed how he can transformer difficult things in very easy and understandable. Congratulations.

  • @jonasheiderking1253
    @jonasheiderking1253 2 года назад

    thank you sooooo much you saved my pediatrics state exam!!!!!!

  • @keinyienchong1991
    @keinyienchong1991 4 года назад +1

    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.

  • @thepeacekeeper3013
    @thepeacekeeper3013 2 года назад +3

    This was the most helpful and summarised med video I've ever watched. Thank you so much. The hard work really paid off. ❤❤❤

  • @munahiljaved2028
    @munahiljaved2028 Год назад +1

    This really made the concepts so easy to understand. Thank you sir!

  • @254throwbackgaming
    @254throwbackgaming 5 лет назад +7

    You’re getting me through medical school man
    Thankyou 👏🏿

    • @HASSAN-ey2qf
      @HASSAN-ey2qf 5 лет назад

      Billy Odhiambo Fitness which year u in

  • @janvisadhwani
    @janvisadhwani 5 лет назад +11

    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!💗

  • @frameshift_mutation
    @frameshift_mutation 7 месяцев назад +2

    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.

  • @Fahcina
    @Fahcina Год назад

    God loves you most! Thank you for the clarity!!!

  • @CiciliaMercy-px7cv
    @CiciliaMercy-px7cv 7 месяцев назад

    You have saved me in biochemistry sir, thanks 😊💗✌️

  • @juanitaj5248
    @juanitaj5248 3 года назад

    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

  • @Dina-cq9mw
    @Dina-cq9mw 4 года назад +3

    BRILLIANT!!! Thankk you so much you made that very easy to remember!

  • @RickyCoco11
    @RickyCoco11 9 месяцев назад +2

    - Andersong is long
    - Tus pompas make my heart hypertrophy (for spanish speakers)

  • @gilfunk_
    @gilfunk_ 2 года назад

    thank you good sir
    and thank you to the visiting student on my peds rotation who turned me on to you

  • @nonot911
    @nonot911 Год назад

    Somehow this was really enjoyable to watch despite my hate for biochem. Thank you for distilling the info!!!!!!!!

  • @BrownTingz
    @BrownTingz Год назад

    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

  • @mudasiral1956
    @mudasiral1956 3 года назад

    Perfect, fabulous and excellent for ever. I need only one watch and it's fixed in my brain forever.

  • @studyturtle7159
    @studyturtle7159 2 года назад +1

    Sir you are a lifesaver! Biochem never felt this easy.. thank u soo much!!

  • @paulocastro5502
    @paulocastro5502 2 года назад +3

    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

    • @summermorris1841
      @summermorris1841 Год назад +1

      I came to the comments to see if anyone pointed this out, thank you haha

  • @manishayadav9715
    @manishayadav9715 3 года назад

    Best video ever seen ...with best tricks to learn👍👍👍

  • @kaiveen09
    @kaiveen09 5 лет назад +6

    Thank god you re-uploaded this! Just in time for my step 2. Thank you

  • @antontk2531
    @antontk2531 5 месяцев назад

    A->B C-D is easier for me. Andersen- Branching, Cory - Debranching

  • @592Johno
    @592Johno Год назад +2

    Absolute banger of a video. Really informative and well explained.

  • @Lo2ay5ory
    @Lo2ay5ory 2 года назад

    You just saved my ass from failing this topic. I love you man.

  • @starrysky1588
    @starrysky1588 5 лет назад +1

    Thankssss a lot.Its my exam tomorrow.You are a life saviour.I wish we had teachers like you in university.

  • @travelales2190
    @travelales2190 2 года назад

    Thnx for making GSDs simple....I was literally going Mad with the topic

  • @abdullahnafea5279
    @abdullahnafea5279 5 лет назад +1

    Thank you a million times... may Allah help you just like you help us.

  • @DrSRana-xm9qk
    @DrSRana-xm9qk 2 года назад

    Excellent lectures on biochemistry. Thank you so much !

  • @sigmawalin5732
    @sigmawalin5732 7 месяцев назад

    Anytime i was struggling with a topic...& u always had something to help..thank u❤️❤️

  • @JujulianaFan
    @JujulianaFan 2 года назад

    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

  • @mamoonbilal5983
    @mamoonbilal5983 2 года назад

    Awesome explaination

  • @xxtimkimxx
    @xxtimkimxx 5 лет назад +6

    This is really high quality material man. Only a matter of time till your content blows up. Keep it up!

  • @rayanisam6089
    @rayanisam6089 2 года назад

    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 .

  • @varunb212
    @varunb212 3 года назад +1

    Who’s this savior of my life ily 😭❤️❤️

  • @ajrogers93
    @ajrogers93 2 года назад +1

    1, 4 straight out the door; 1, 6 branching with sticks

  • @nystagmus
    @nystagmus 5 лет назад

    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.

  • @VCR47527
    @VCR47527 3 года назад +1

    How do you differentiate von Gierke & Her's disease?

  • @GuardiansofEarth
    @GuardiansofEarth Год назад

    That Anderson Cooper mnemonic was complete GOAT.

  • @aleenaf.sheikh9255
    @aleenaf.sheikh9255 3 года назад

    i have an exam tomorrow ...............THANNNKKK YYOOUUUUUUU

  • @ME-lc2zg
    @ME-lc2zg 2 года назад

    The debranching enzyme generates glucose residues while glycogen phosphorylase will generate glucose 1 phosphate.

  • @reaganelyse26
    @reaganelyse26 Год назад

    amazing, God bless you

  • @readerviewer8698
    @readerviewer8698 3 года назад +1

    Great Presentation, Sir!

  • @MedManiac1
    @MedManiac1 2 года назад +1

    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

  • @il3354
    @il3354 Год назад

    I can’t express how amazing this is! Thank you, thank you that k you!!!!!

  • @daifulao564
    @daifulao564 Год назад

    Great work

  • @youssefadel2822
    @youssefadel2822 13 дней назад

    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

  • @Jpgolfmed
    @Jpgolfmed 11 месяцев назад

    This was a fantastic video. Props to you good sir.

  • @shahabuddin6149
    @shahabuddin6149 Год назад

    Super lecture thanks a lot Sir

  • @glnerd
    @glnerd 4 года назад +1

    In glycogenesis you have two more enzymes glycogenin and branching enzyme

  • @shuvoislam8104
    @shuvoislam8104 3 года назад +1

    fantastic illustration bro...looking forward to more from u

  • @hellomedicine6490
    @hellomedicine6490 2 года назад

    What a great work

  • @TaimoorKhan-jw1jx
    @TaimoorKhan-jw1jx Год назад

    ❤❤❤thanks sir can you tell me where i can fine you notes.

  • @kayallen7603
    @kayallen7603 Год назад

    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?

  • @josiahlartey8736
    @josiahlartey8736 2 года назад

    You killed it,man!!!! Mind blowing

  • @MedKeys.
    @MedKeys. 8 месяцев назад

    Thank you so much for making these videos man, i really appreciate your videos.

  • @Veronicaixchel
    @Veronicaixchel 4 месяца назад

    Great lecture 😊

  • @mohammedaltayeb6252
    @mohammedaltayeb6252 3 года назад

    Very informative and easy... Thanx bro

  • @StoicDoctor.
    @StoicDoctor. Год назад

    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.

  • @GermaeAnne
    @GermaeAnne 3 года назад +5

    The irony of using Anderson cooper to recall something about staying "straight" is so delicious.

    • @TheDenzendunc
      @TheDenzendunc 3 года назад +1

      I thought the exact same thing 🤣

  • @riichiota2683
    @riichiota2683 Год назад

    Thank you so much. You did a great job.

  • @khushwindersingh5244
    @khushwindersingh5244 3 года назад +1

    glycogen by muscle isn't released outside it to be used by body right?

  • @rdmd
    @rdmd 3 года назад

    Great crash course on the topic, thanks!

  • @sanahayyub5102
    @sanahayyub5102 2 года назад

    So easy !!! I struggled to remember these so much!! God bless u dirty

  • @pswpeng
    @pswpeng 3 года назад

    wonderful video, thank you so much!! i am preparing for Neurology broad exam, and I couldn't get through the metabolic disorders.

  • @archangel80303
    @archangel80303 3 года назад

    Thanks Dirty.God bless you.

  • @jmsisley
    @jmsisley 2 года назад

    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!

  • @dr.md.atiqurrahman4802
    @dr.md.atiqurrahman4802 3 года назад

    Just awesome.....Thanks a lot

  • @fajaru3790
    @fajaru3790 2 года назад

    Great job

  • @shamshosho9306
    @shamshosho9306 6 месяцев назад

    you're a lifesaver mister ❤❤

  • @aseeldmour827
    @aseeldmour827 4 года назад

    Excellent

  • @simoreta
    @simoreta 3 года назад

    Very informative and easy to understand! Thank you

  • @juandiegoneuro
    @juandiegoneuro 3 года назад

    thank you so much. best quality video

  • @issacgeorgy8289
    @issacgeorgy8289 8 месяцев назад

    Life changing video❤❤❤

  • @chiahsuantsauo8375
    @chiahsuantsauo8375 3 года назад +2

    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

  • @bilalbehram2156
    @bilalbehram2156 2 года назад

    sir outstanding work🙏

  • @gavinbarringer849
    @gavinbarringer849 2 года назад

    Would you ever do C reactive protein test and what would make it increase.
    Thanks