Diagnosis of Andersen's Disease

Hello fellow classmates! Today we'll be talking about Andersen's Disease and how doctors diagnose Andersen's disease. 

Clinical evaluations are done either during infancy or childhood (and occasionally, adulthood). Family history is looked at to see if parents are carriers of the disease as it is a recessive disease (implying it requires 2 copies of the recessive allele for a person to be affected). 

                            

Biopsies are taken for examination which may show signs of abnormally structured glycogen or amylopectin-like deposits. Sample can be taken from muscle, liver tissue and even skin cells or blood cells for an indirect enzyme assay. 

Counting of blood cells, testing of liver functions and glucose level in blood may be done to aid in detection of symptoms that are associated with the disease. Such test can also be done prenatally by taking biopsy of the chorionic villi or via amniocentesis where the amniotic fluid is used. 

Diagrams showing how the prenatal test are administered. 

Sources:

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/394/viewFullReport

http://www.babycenter.com/0_amniocentesis_327.bc#articlesection1

http://www.mamasonbedrest.com/wp-content/uploads/2010/02/amnioandCVS.jpg

What Exactly Causes Andersen's Disease?

Andersen's Disease is usally characterized by a lack of glycogen branching enzyme (GBE). As its name suggests, it exist to form multiple branch point during the formation of glycogen (which is what we want). Since we know that glucose is stored as glycogen which is essentially the branched form of glucose -plays flashback scene of MBC & Physiology lectures- , the lack of GBE leads to structurally abnormal glycogen!

So a glycogen with less branching point would look similar to amylopectin, which is the reason why Andersen's Disease is sometimes also known as Amylopectinosis.

So what's how do doctors diagnose a patient with Andersen's Disease? That's for you to find out in another blog post! 

Sources:

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/394/viewFullReport

http://2012books.lardbucket.org/books/an-introduction-to-nutrition/section_08/83d76e165d784a9bc705cc259e416ed9.jpg

Medical Biochemistry Project - Andersen's Disease

Medical Biochemistry Project

Introduction

Andersen's Disease, also known as Glycogen Storage Disease Type IV, is a glycogen storage disease due to an enzyme defect. This enzyme defect leads to the inability of the body converting glycogen (long-branched chain of glucose) into glucose, leading to an accumulation of glycogen in the body's tissue. Eventually, this leads to hepatosplenomegaly (enlargement of spleen and liver), cirrhosis of the liver (scarring of liver), and hepatic (liver) failure are major concerns.

So after hearing all that, I'm pretty sure that an ice cream problem would be easier to treat than Andersen's Disease. 

Till the next time! 

Sources:http://www.webmd.com/digestive-disorders/cirrhosis-liverhttp://img0.joyreactor.com/pics/post/funny-pictures-auto-first-world-problem-sponge-bob-470164.jpeg