Glycogen Storage Diseases 

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

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

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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

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.

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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

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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"

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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.

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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.

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

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

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.

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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).

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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.

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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

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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

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

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