Republic Iraq

Education Higher of Ministry

University Baghdad
College Dentistry

BIOCHEMISTRY
Glycogen Storage Diseases

Ali Hayder Kadhum

Group: C
Supervised by: Dr. Iman
 Glycogen Storage Diseases

Glycogen is a multibranched polysaccharide of glucose that work as a form of energy storage

in animals, fungi, and bacteria. The polysaccharide structure represents the main storage form
of glucose in the body. Glycogen may be a branched biopolymer consisting of linear chains of
glucose residues. Glucose units are linked together linearly by α [1→4] glycosidic bonds from
one glucose to the next. Branches are linked to the chains from which they are branching off
by α [1→6] glycoside bonds between the first glucose of the new branch and a glucose on the
stem chain. That because to the way glycogen is synthesised, every glycogen granule has at its
core a glycogenin protein. FIG (1)

FIG (1): Diagram of the structure of glycogen.

Glycogen Storage Diseases: The body’s cells need a steady supply of fuel in order to
function the right way. This fuel is a simple sugar called glucose. Glucose comes from
breaking down the food we eat. The body uses as much glucose as it needs to function and
stores the rest to use later. Before it often stored, the body must combine the straightforward
glucose units into a new, complex sugar called glycogen. The glycogen is then stored within
the liver and muscle cells. When the body needs extra fuel, it breaks down the glycogen stored
within the liver back into the glucose units the cells can use. Special proteins called enzymes
help both make and break down the glycogen during a process called glycogen metabolism.
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Causes of (GSD):
Sometimes a person is born missing an enzyme needed for this process or it may not work
right. Then the body is not able to store or break down the glycogen as it should. This can
lead to very low blood glucose levels during periods of fasting. The muscles and organs need
a certain level of glucose in the blood to work properly. When the body is missing an enzyme
or has a flawed enzyme and is not able to use glycogen the right way, it leads to a condition
called glycogen storage disease (GSD).

Type of (GSD):
There are several types of GSD (Table 1):

Type Name of type Areas of the body

Type 0 Lewis' disease Liver

Type I von Gierke’s disease Ia – Liver, kidneys, intestines;
Ib – Liver, kidneys, intestines, blood cells.
Type II Pompe’s disease Muscles, heart, liver, nervous S, blood vessel

Type III Forbes-Cori disease Liver, heart, skeletal muscles, blood cells
Type IV Andersen’s disease Liver, brain, heart, muscles, skin, nervous S
Type V McArdle’s disease Skeletal muscles.
Type VI Hers’ disease Liver, blood cells
Type VII Tarui’s disease Skeletal muscles, blood cells
Type IX - Liver
Type XI Fanconi-Bickel syndrome Liver, kidneys, intestines.
Table (1): Types of GSD

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Symptoms and signs of GSD:
Some GSDs affect the liver which include Types 0, I, III, IV, VI and IX. However, they may
sometimes have overlapping symptoms affecting muscle and heart. These types (except for
GSD type 0) may cause the liver to become enlarged. An enlarged liver is linked to low
blood glucose levels because excess glycogen is stored within the liver rather than being
released as glucose in the blood stream. Symptoms of low blood glucose, or hypoglycemia,
include sweating, tremor, drowsiness, confusion and sometimes seizures. Some GSDs, such
as types V and VII, mostly affect the skeletal muscles. FIG (2).
Other symptoms that may occur include (tiredness. very slow growth, Problems with
bleeding and blood clotting, Kidney problems, Low resistance to infections)

Diagnosis of GSD:
There are four symptoms that might cause the doctor to detect a type of GSD that affects the
liver. FIG (2)

• A low blood glucose level.

• An enlarged liver.
• Lagging growth.
• Abnormal blood tests.

FIG (2): Micrograph of glycogen storage disease (III) Liver.

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And can detect GSD by:

Blood tests – To find out your blood sugar level and to see how your liver, kidneys and
muscles are working.

Tissue biopsy – Testing a sample of tissue from a muscle or your liver to know how the
level of glycogen or enzymes present.

Gene testing – To look for problems with the genes for various enzymes. Gene testing can
confirm a GSD.

Treatment of GSD:
Treatment varies depending on the type of GSD. For types of GSD that involve the liver,
treatment is aimed toward keeping the proper level of glucose within the blood. This is often
enough to save the cells fuel needs and prevent long-term complications associated with
poorly controlled GSD. Treatment consists of taking regular doses of uncooked cornstarch
and/or nutrition supplements. Cornstarch may be a complex carbohydrate that's difficult for
the body to digest; so, it maintains normal blood sugar levels for a longer period of time than
most carbohydrates in food. Eating small meals that are low in sugar can help keep blood
sugar levels normal while preventing excess glycogen storage within the liver.

Type IV GSDs with progressive liver disease may need to be considered for liver
transplantation after a thorough evaluation. FIG (3)

FIG (3): Liver Transplantation

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Prevent GSD:
GSDs are handed down from parents to the children through their genes. Therefore, they
cannot be prevented. Parents could find out through genetic testing if they carry a gene for a
GSD. Both parents should have a gene for the same type of GSD for a child to inherit the
disorder.

Reference:
1. adava; et al. (2011). Life (9th, International ed.). W. H. Freeman

2. Stuart, Grant; Ahmad, Nargis (2011). "Perioperative care of children with inherited
metabolic disorders". Continuing Education in Anaesthesia Critical Care & Pain. 11 (2): 62–
68

3- NORD (National Organization for Rare Disorders). Retrieved 23 March 2017.

http://www.agsdus.org/what-is-gsd.php

http://my.clevelandclinic.org/health/diseases/15553-glycogen-storage-disease-gsd

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