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University of Raparin College of Science MLS Department 2 Stage

The document defines and describes 6 types of Glycogen Storage Disorder (GSD). GSD is a hereditary disorder where the body's enzymes malfunction and it is unable to effectively store or break down glycogen. The types discussed are Type I, III, IV, VI, and IX and their defining characteristics and symptoms are outlined.

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29 views4 pages

University of Raparin College of Science MLS Department 2 Stage

The document defines and describes 6 types of Glycogen Storage Disorder (GSD). GSD is a hereditary disorder where the body's enzymes malfunction and it is unable to effectively store or break down glycogen. The types discussed are Type I, III, IV, VI, and IX and their defining characteristics and symptoms are outlined.

Uploaded by

Rekan Daho
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as DOCX, PDF, TXT or read online on Scribd
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University of Raparin

College of science
MLS department
2end stage

Glycogen storage disorder

Prepared: diary ali


Supervisor: mohamad ahmad
(2021-2022)
Content
1. Definition of GSD

2. GSD type I

3. GSD type III

4. GSD Type IV

5. GSD Type VI

6. GSD Type IX
Definition of glycogen storage disorders
Glycogen storage disease (GSD) is a hereditary disorder in which the
body's enzymes malfunction and it is unable to effectively store or
break down the complex sugar glycogen. GSD has an impact on the
liver, muscles, and other body organs. GSD can manifest itself in a
variety of ways.

Type I (GSD): Type I diabetes is caused by a lack of the enzyme needed


to convert glycogen to glucose in the liver. In the liver, glycogen
accumulates. Symptoms usually emerge in babies between the ages of
3 and 4 months. Low blood sugar (hypoglycemia) and a bloated
abdomen due to an enlarged liver are two of them.

Type III (GSD): People with type III lack enough of a debranching
enzyme, which aids in the breakdown of glycogen. The glycogen can't
be completely broken down. It builds up in the liver and muscular
tissue. A bloated tummy, slowed growth, and weak muscles are some
of the symptoms.

Type IV (GSD): Type IV people produce aberrant glycogen. The aberrant


glycogen, according to experts, activates the body's infection-fighting
system (immune system). Cirrhosis (scarring) of the liver and other
organs such as muscle and the heart results as a result of this.
Type VI (GSD): is a hereditary illness in which the liver is unable to
adequately metabolize sugar. The liver is in charge of metabolizing a
chemical called glycogen. Glycogen is the sugar that is kept after
carbohydrates are broken down.

type IX (GSD) : The inability to break down a complex substance called


glycogen causes this illness. Glycogen breakdown in liver cells, muscle
cells, or both can be affected by the many forms of the disease. The
damaged tissue's normal function is hampered by a lack of glycogen
breakdown.

References

1. Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P,


Dalton A, Tanner MS, Pronicka E, Sharrard MJ. High frequency of
missense mutations in glycogen storage disease type VI. J Inherit
Metab Dis. 2007;30:722–34.
2. Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG.

Identification of a mutation in liver glycogen phosphorylase in


glycogen storage disease type VI. Hum Mol Genet. 1998;7:865–
70.

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