Glucogen Storage

Question 1

VON GIERKE DISEASE

🚐 gierken

⬇️🍬6P

😖👎🏼🍬 , ⬆️💉🍼, ⬆️Uric 🐐, 🏈megaly, ⬆️🍕, ⬆️⬆️ glycogen

Answer 1

Type 1 Von GIERKE
Severe fasting hypoglycemia, increase glycogen in liver, increase blood lactate, increased triglycerides, increase Uric acid (gout) hepatomegaly.

Deficient: glucose 6 phosphatase

Question 2

Pompe type II

💗, 🏃🏻😓, 👼🏽☠

⛔️lysosomal ➰1,4 🍬cosidase
➰ 1,6 🍬cosidase 🅰 ( acid
Maltase)
Pompe 🗑 the 💣
❤️ 🏈💪🏼

Answer 2

Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, and systemic finds leading to early death.

Deficiency: lysosomal alpha 1-4 glucosidase
Alpha 1-6 glucosidase activity (acid
Maltase)
Pimped trashes the pump ( heart, liver,muscle)

Question 3

Cori type III

Milder 🚐 normal🍼💉
Accumulation of limit 🤓🔬⚗👍🏼 structures in cyto☀️.

⛔️ D🌿 enzyme ➰1,6 🍬sidase.

Answer 3

Milder form of Von GIERKE
Normal blood lactate levels.
Accumulation of limit dextrin like structures in cytosol.

Debranching enzyme alpha 1,6 glucosidase

Question 4

McArdle Type V

⬆️ glycogen 💪🏼➡️😖💪🏼
🌶🚽 with 🏋🏻⛹🏻🚴🏼
💞 from abnormal 💦

⛔️ 💀💪🏼 glycogen phosphorylase
McArdle= Muscle

Answer 4

Increased glycogen in muscle, but muscle cannot break down, painful muscle cramps, myoglobinuria (red urine) with exercise, and arrhymia from electrolyte abnormality.
Second wind phenomenon noted during exercise due to ⤴️ muscular blood flow.