Von Gierke and Friends

I took my test this morning. I'd say i did quite good considering the fact that i haven't prepared for it that well. Also, It was pretty easy to take a guess since it was multiple choice. Anyway, i decided to write something related to that subject and i chose something that is pretty easy to understand.

Glucose Storage Diseases or GSDs are caused by a deficiency of a specific enzyme involved in the metabolism of glycogen. 

Take note that glycogen is the stored form of glucose (Glycogenenis - Glucose to Glycogen), with your liver and muscles acting as warehouses. Should your body need glucose, it would assign enzymes to break those stored glycogen down (Glycogenolysis).

There are 15 types of GSDs. Liver damage is observable in types 1, 3, 4, 6, and 9 to 0. While muscular defects are present in types 5, 7, and 9.

Types

Type 1a

• Von Gierke Disease
• Most common type of GSD
• Glucose-6-Phosphate (G6P) Deficiency
• Manifestations: Hepatomegaly (Liver enlargement), retarded growth, seizures, and Type 1a is also associated with lipidemia (High concentration of fats in blood)

Type 1b

• G6P Translocase deficiency
• Manifestations: Hepatomegaly, retarded growth, seizures, and recurrent bacterial infections.

Type 2

• Pompe Disease
• 1,4-Glucosidase Deficience
• Manifestations: Cardiomegaly (Heart enlargement), and infantile death

Type 3a

• Cori Forbes Disease
• Liver and Muscle De Brancher Enzyme Deficiency
• Manifestations: Hepatomegaly, muscle weakness, retarded growth, and cardiomyopathy (Heart muscle weakness)

Type 3b

• Liver De Brancher Enzyme Deficiency
• Manifestations: Hepatomegaly, retarded growth, and cardiomyopathy

Type 4

• Andersen Disease
• Brancher Enzyme Deficiency
• Manifestations: Cirrhosis (Liver scarring and abnormal liver function), esophageal varices (Varicose veins in esophagus), and ascites (accumulation of fluids in peritoneal cavity - abdomen)

Type 5

• McArdle Disease
• Muscle Phosphorylase Deficiency
• Manifestations: Myoglubinuria (Oxygen storing proteins in urine), and muscle cramps

Type 6

• Hers Disease
• Liver Phosphorylase Deficiency
• Manifestations: Hepatomegaly, and hypoglycemia (Low blood glucose)

Type 7

• Tarui Disease
• Phosphofructokinase Deficiency
• Manifestations: Muscle pain and stiffness

Type 8

• Adenyl Kinase Deficiency
• Manifestation: Urinary excretion of catecholamines 

Type 9a

• Liver Phosphorylase Kinase Deficiency
• Manifestations: Hepatomegaly, hypoglycemia, and delay in motor movement

Type 9b

• Liver and Muscle Phosphorylase Kinase Deficiency
• Manifestations: Hepatomegaly, retarded growth, and muscle hypotonia (Low muscle tone)

Type 10

• Cyclic-Amp Dependent Kinase Deficiency
• Manifestation: Hepatomegaly

Type 11

• Fanconi-Bickell Disease
• Glucose Transporter-2 Enzyme Deficiency
• Manifestations: Hepatomegaly and rickets (Soft and distorted bones)

Type 0

• Yes, it's actually called type 0
• Glycogen Synthase Deficiency
• Manifestations: Hypoglycemic symptoms in morning and mild growth delay

And that's it, your GSDs. Here's a still of Clementine and Joel, played by Kate Winslet and Jim Carrey, from "The Eternal Sunshine of the Spotless Mind" (2004). I will attach a film related photo everytime I make a science-themed post, and vice versa.

Photo from: thefilmemporium.blogspot.com

Reference: Clinical Chemistry 6th Edition by Bishop, Fody, Schoeff