Glycogen storage disease is a rare inherited condition that affects the body's ability to metabolize glycogen, a complex sugar. There are several types that affect different organs like the liver, muscles, or blood cells. Symptoms vary by type but can include an enlarged liver, low blood sugar, muscle weakness, and developmental delays. Diagnosis involves medical history, physical exam, blood and urine tests, and sometimes biopsies or imaging tests. Treatment focuses on dietary changes and medications to manage symptoms.

1. Glycogen storage
disease
By
G.Tharani
1st M.sc Biochemistry

2.  GSD is passed down from parents to children (is hereditary). It
is most often seen in babies or young children. But some
forms of GSD may appear in adults.
GLYCOGEN STORAGE DISEASE
Glycogen storage disease (GSD) is a rare condition that changes
the way the body uses and stores glycogen, a form of sugar or
glucose.

3.  GSD mostly affects the liver and the muscles. Some types cause problems
in other areas of the body as well. Types of GSD and the parts of the body
they affect the most include:
•Type VI (Hers’ disease) – Liver, blood cells.
•Type VII (Tarui’s disease) – Skeletal muscles, blood cells.
•Type IX – Liver.
•Type XI – Liver, kidneys, intestines.

4. Symptoms
Glycogen storage disease type VI (also known as GSDVI or Hers
disease) is an inherited disorder caused by an inability to break
down a complex sugar called glycogen in liver cells. A lack of
glycogen breakdown interferes with the normal function of the liver .
GSDTypeVI
Symptoms of GSD6 usually begin in infancy or childhood and may
include an enlarged liver (hepatomegaly), low blood sugar
(hypoglycemia) or an increase in the amount of lactic in the blood
(lactic acidosis).

5. GSDTYPEVII
 Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or
glycogen storage disease type 7 (GSD7), is a rare form of glycogen
storage disease characterized by fatigue and muscular exercise
intolerance. It occurs in childhood.
Glycogen storage disease type 7 (GSD7) is an inherited condition in
which the body is unable to break down glycogen (a complex
sugar) in the muscle cells .

6. • GSD
TYPEVIII
 An x-linked recessive hepatic glycogen storage disease resulting from lack of
expression of phosphorylase-b-kinase activity. Symptoms are relatively mild;
hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase
are present.

7. GSDXIType
 Glycogen storage disease type IX (also known as GSD IX) is
a condition caused by the inability to break down a complex
sugar called glycogen.
 When GSD IX affects the liver, the signs and symptoms
typically begin in early childhood. The initial features are
usually an enlarged liver (hepatomegaly) and slow growth.
Affected children are often shorter than normal.

8. Symptoms of
XI type
 Affected children may have delayed development of motor
skills, such as sitting, standing, or walking, and some have
mild muscle weakness

9.  Glycogen Storage Disease Diagnosis
 Glycogen storage disease diagnosis usually occurs in
as a result of the above symptoms.
If your child's doctor suspects a glycogen storage
diseases, he or she will ask about your child's
symptoms and medical history, then perform a
physical exam.
MRI scan – a test that uses magnetic waves to make
pictures of the inside of the body
•Biopsy of the affected organs
•Blood tests and urine tests

10.  Types VI, IX - Hers' Disease
 Liver enlargement occurs, but diminishes with age
 Low blood sugar
 Type VII- Tarui's Disease
 Muscle cramps with exercise
 Anemia
 Type VIII
 Muscle weakness
 Anemia
 Increased levels of uric acid

11. Common
Symptoms
 A low blood glucose level.
 An enlarged liver.
 Lagging growth.
 Abnormal blood tests.

12.  REFERENCE LINK
 https://www.hopkinsmedicine.org
 https://www.chop.edu.>glycogen-st
 https://medicineplus.gov>condition.