Master Von Gierke Disease with Picmonic for Medicine

With Picmonic, facts become pictures. We've taken what the science shows - image mnemonics work - but we've boosted the effectiveness by building and associating memorable characters, interesting audio stories, and built-in quizzing.

Von Gierke Disease

Van Jerky
Picmonic
Von Gierke’s disease is a type I glycogen storage disease cause by a deficiency in glucose-6-phosphatase. This key enzyme is used for breaking down glycogen to make glucose when blood glucose levels are low. Without this enzyme, the body is unable to manufacture the glucose needed to maintain blood sugar levels. Therefore, patients suffer from severe fasting hypoglycemia and develop elevated blood lactate levels as they use alternative fuel sources. Patient’s also develop severe hepatomegaly and enlarged kidneys due to the accumulation of glycogen in these organs. 
13 KEY FACTS
PATHOPHYSIOLOGY
Autosomal Recessive
Recessive-chocolate

Von Gierke disease is inherited in an autosomal recessive modality. This means two copies of the abnormal gene must be inherited in order for the disease to develop.

Type I Glycogen Storage Disease
#1 Glider jerky

Von Gierke's disease is a type I glycogen storage disease.

Glucose-6-Phosphatase Deficiency
Glue 6 Phosphate-P is Broken

This is the enzyme that is essential for the final step of glycogenolysis. If deficient, the patient is unable to mobilize glucose stores via glycogen breakdown.

SIGNS AND SYMPTOMS
Increased Glycogen in Liver
Up-arrow Glider in Liver

Without the glucose 6 phosphatase enzyme participating in glycogen breakdown, glycogen stores are unable to be mobilized and accumulate in the liver. It is important to note that patients can make glycogen but cannot break it down.

Hepatomegaly
Liver-balloon

Hepatomegaly, or an enlarged liver, occurs due to the abundance of glycogen accumulating in the liver.

Enlarged Kidneys
Kidney-balloon

Glycogen is also stored in the kidneys, thus it also accumulates in the kidney, much like it does in the liver.

Severe Fasting Hypoglycemia
Extremely Skinny Hippo-glue-bottle

Patients lack the ability to maintain blood sugar, because when blood sugar levels are low, glycogen cannot be effectively broken down to glucose in the liver.

Increased Triglycerides
Up-arrow Triceratops

Because there is a deficiency of glucose-6-phosphatase, glucose-6-phosphate molecules are shunted into other metabolic pathways. These glucose-6-phosphate molecules are converted into triglycerides, which are exported for storage in adipose tissue as fat.

Increased Uric Acid (Gout)
Up-arrow Unicorn with Acidic-lemon

In Von Gierke disease, increased uric acid accumulates because of numerous reasons. A concurrent lactic acidosis in this disorder leads to decreased urinary excretion of uric acid. Additionally, because glucose-6-phosphatase is deficient, glucose-6-phosphate is shunted through the pentose phosphate pathway to create uric acid.

Increased Lactic Acid
Up-arrow Lake Acidic-lemon

Lactate increases as the body is forced to utilize alternative means for fuel when blood glucose levels are insufficient.

Doll-like Facies
Doll Face

Patients with Von Gierke disease have a characteristic rounded "doll-like facies" due to fat deposition.

TREATMENT
Continuous Oral Glucose (or Cornstarch)
Infinite Oral Glue

Because patients are hypoglycemic, and cannot participate in glycogenolysis, they must continuously ingest oral glucose. Cornstarch is another dietary option, as it provides gradually digested glucose, and decreases the necessity for constant feeds.

Avoid Fructose and Galactose
Avoid Fruit-toast and Galactic-toast

Fructose and galactose should be avoided in Von Gierke patients, as these sugars must first be converted to glucose-6-phosphate before they can be utilized in the body.

Unlock all 13 facts & definitions with Picmonic Free!

JOIN FREE

Take the Von Gierke Disease Quiz

Picmonic's rapid review multiple-choice quiz allows you to assess your knowledge.

START QUIZ NOW

It's worth every penny

Our Story Mnemonics Increase Mastery and Retention

Memorize facts with phonetic mnemonics

Unforgettable characters with concise but impactful videos (2-4 min each)

Ace Your Medical (MD/DO) Classes & Exams with Picmonic:

Over 900,000 students use Picmonic’s picture mnemonics to improve knowledge, retention, and exam performance.

Choose the #1 Medical (MD/DO) student study app.

Picmonic for Medicine (MD/DO) covers information that is relevant to your entire Medical (MD/DO) education. Whether you’re studying for your classes or getting ready to conquer the USMLE Step 1, USMLE Step 2 CK, COMLEX Level 1, or COMLEX Level 2, we’re here to help.

Works better than traditional Medical (MD/DO) flashcards.

Research shows that students who use Picmonic see a 331% improvement in memory retention and a 50% improvement in test scores.