GLYCOGEN STORAGE DIASEASES(GSDS)

This is a rare condition that changes the way the body uses and stores glycogen, as a form of
glucose. Glycogen is normally stored in the liver and the muscles. When the body is in need
of energy, glycogen is broken down into glucose which is then released out in the body.
GSDs occur when someone is missing one of the enzymes that break down glycogen. This
may cause glycogen to build up causing problems in the liver and muscles.
GSDs occur mainly in children and are mostly hereditary. (Glycogen Storage Diseases, 2024)
Symptoms
Manifestations of GSDs often look like other health related problems and may include:
• Poor growth
• Low blood glucose (hypoglycaemia)
• An enlarged liver
• Abnormal blood tests
• Low muscle tone
• Muscle pain and cramping during exercise.
• Too much acid in the blood
Diagnosis
A medical history can lead the doctor to suspect GSDs since it is inherited.
Blood tests to check blood glucose level and how the liver, kidneys, and muscle are
functioning.
Abdominal ultrasound to see if the liver is enlarged.
Tissue biopsy to test a sample of tissue from muscle or liver to measure the level of glycogen
or enzymes.
Genetic testing, which can confirm a GSD.
Treatment
There is no cure of GSD. Treatment depends on the type of GSD.
The goal is to maintain the proper level of glucose in the blood, so cells have the fuel they
need. Ways to do this include:
• Cornstarch therapy
• Eating high protein diet.
• Mineral supplements like calcium, vitamin D, and iron supplements.
• Allopurinol drug to reduce level of uric acid in the blood.
• Medications to lower lipid levels, treat and prevent kidney disease.
• Human granulocyte colony stimulating factor to treat recurrent infections in GSD type
1b patients.
• Overnight feeding of children.
Types of GSDs and Part of Body Affected
1. Type O (Lewis Disease) – Liver
2. Type 1 (Von Gierke’s Disease). Type 1a- Liver, Kidney, Intestines. Type 1b – Liver,
Kidney, intestines, blood cells
3. Type II ( Pompe’s Disease) – Muscles, heart, liver, nervous system, blood vessels
4. Type III ( Forbes- Cori Disease) – Liver, Heart, Skeletal muscles, Blood cells
5. Type IV ( Andersen’s Disease) – Liver, Brain, heart, muscles, blood cells
6. Type V ( McArdle’s Disease) – Skeletal Muscles
7. Type VI ( Her’s Disease) – Liver, Blood cells
8. Type VII ( Tarui’s Disease) – Skeletal muscles, blood cells
9. Type IX ( Phosphorylase kinase deficiency) – Liver
10. Type XI ( Fanconi-Bickel Syndrome) – Liver, Kidneys, Intestines
Most common GSDS are type I,II,IIII, and IV.
(Stone, 2023)
Type O (Lewis Disease) – Liver:
Cause: Type O GSD is caused by a deficiency of glycogen synthase enzyme.
Symptoms: Symptoms may include hepatomegaly (enlarged liver), hypoglycaemia (low
blood sugar), and growth retardation.
Diagnosis: Diagnosis is typically confirmed through genetic testing and liver biopsy.
Treatment: Management involves maintaining blood sugar levels through frequent meals,
nocturnal gastric drip feeding, or uncooked cornstarch supplementation.
Type 1 (Von Gierke’s Disease):
Cause: Type 1 GSD is caused by a deficiency in glucose-6-phosphatase enzyme.
Symptoms: Symptoms include severe fasting hypoglycaemia, hepatomegaly, growth
retardation, and lactic acidosis.
Diagnosis: Diagnosis involves blood tests to measure glucose and lactate levels, as well as
genetic testing.
Treatment: Treatment focuses on frequent feeding, including cornstarch supplementation, and
in some cases, liver transplantation may be considered.
Type II (Pompe’s Disease):

Cause: Pompe’s Disease results from a deficiency of acid alpha-glucosidase enzyme.

Symptoms: Symptoms may include progressive muscle weakness, cardiac hypertrophy
(enlarged heart), and respiratory difficulties.
Diagnosis: Diagnosis is typically confirmed through enzyme assays, genetic testing, and
muscle biopsy.
Treatment: Enzyme replacement therapy (ERT) with recombinant acid alpha-glucosidase
is the primary treatment. Physical therapy and respiratory support may also be necessary.
Type III (Forbes-Cori Disease):

Cause: Forbes-Cori Disease is caused by a deficiency in the glycogen debranching

enzyme.
Symptoms: Symptoms include hepatomegaly, hypoglycaemia, growth retardation, and
myopathy.
Diagnosis: Diagnosis involves genetic testing, liver biopsy, and blood tests for glucose
and enzyme levels.
Treatment: Treatment focuses on maintaining blood glucose levels through frequent
meals and avoiding fasting. Liver transplantation may be considered in severe cases.

Type IV (Andersen’s Disease):

Cause: Andersen’s Disease results from a deficiency of glycogen branching enzyme.
Symptoms: Symptoms include hepatomegaly, liver cirrhosis, cardiac involvement, and
muscle weakness.
Diagnosis: Diagnosis involves genetic testing, liver biopsy, and imaging studies.
Treatment: Treatment options are limited, and management primarily involves supportive
care.
Type V (McArdle’s Disease):

Cause: McArdle’s Disease is caused by a deficiency in muscle glycogen phosphorylase

enzyme.
Symptoms: Symptoms include exercise intolerance, muscle cramps, myoglobinuria (dark
urine), and fatigue.
Diagnosis: Diagnosis involves genetic testing and exercise testing with measurements of
lactate and ammonia levels.
Treatment: Treatment includes avoiding strenuous exercise and maintaining a diet rich in
carbohydrates.
Type VI (Hers Disease):

Cause: Hers Disease results from a deficiency in liver glycogen phosphorylase enzyme.
Symptoms: Symptoms include hepatomegaly, fasting hypoglycaemia, and growth
retardation.
Diagnosis: Diagnosis involves genetic testing, liver biopsy, and blood tests for glucose
and enzyme levels.
Treatment: Treatment involves maintaining blood glucose levels through frequent meals
and avoiding fasting.
Type VII (Tarui’s Disease):

Cause: Tarui’s Disease is caused by a deficiency in muscle phosphofructokinase enzyme.

Symptoms: Symptoms include exercise intolerance, muscle cramps, myoglobinuria, and
fatigue.
Diagnosis: Diagnosis involves genetic testing, exercise testing, and muscle biopsy.
Treatment: Treatment includes avoiding strenuous exercise and maintaining a diet rich in
carbohydrates.
Type IX (Phosphorylase Kinase Deficiency):

Cause: Phosphorylase Kinase Deficiency results from a deficiency in the enzyme

phosphorylase kinase.
Symptoms: Symptoms include hepatomegaly, fasting hypoglycaemia, and growth
retardation.
Diagnosis: Diagnosis involves genetic testing, liver biopsy, and blood tests for glucose
and enzyme levels.
Treatment: Treatment involves maintaining blood glucose levels through frequent meals
and avoiding fasting.
Type XI (Fanconi-Bickel Syndrome):

Cause: Fanconi-Bickel Syndrome is caused by mutations in the GLUT2 gene, leading to

impaired glucose transport.
Symptoms: Symptoms include hepatomegaly, growth retardation, renal tubular
dysfunction, and fasting hypoglycaemia.
Diagnosis: Diagnosis involves genetic testing, renal function tests, and blood glucose
measurements.
Treatment: Treatment includes dietary management with frequent carbohydrate intake,
monitoring of renal function, and vitamin supplementation.
 HYPERCHOLESTEROLEMIA
Hypercholesterolemia refers to high levels of cholesterol in the blood. Cholesterol is a waxy,
fat-like substance found in your body and many foods. While your body needs cholesterol to
build healthy cells, having high levels can increase your risk of heart disease.
Hypercholesterolemia can be caused by various factors, including genetics, diet, lifestyle
choices, and underlying health conditions. Here's an elaboration on the causes, management
with lifestyle changes, control, and treatment of hypercholesterolemia: (Ibrahim, 2023)
Causes
Genetics: Familial hypercholesterolemia is a genetic condition characterized by high
cholesterol levels. It's inherited from one or both parents and can result in very high levels of
low-density lipoprotein (LDL) cholesterol, often referred to as "bad" cholesterol.

Diet: Consuming a diet high in saturated fats, trans fats, and cholesterol can contribute to
elevated cholesterol levels. These fats are often found in processed foods, red meat, full-fat
dairy products, and fried foods.

Lifestyle Factors: Lack of physical activity, smoking, and excessive alcohol consumption can
also contribute to high cholesterol levels.

Health Conditions: Conditions such as diabetes, hypothyroidism, liver disease, kidney

disease, and certain medications can impact cholesterol levels.
(Askinazi, 2022)
Management with Lifestyle Changes
Healthy Diet: Adopting a diet rich in fruits, vegetables, whole grains, and lean proteins can
help lower cholesterol levels. Avoiding saturated and trans fats is crucial. Incorporating foods
high in omega-3 fatty acids, such as salmon and walnuts, may also be beneficial.

Regular Exercise: Engaging in regular physical activity can help raise high-density
lipoprotein (HDL) cholesterol, the "good" cholesterol, and lower LDL cholesterol. Aim for at
least 150 minutes of moderate-intensity exercise per week.

Weight Management: Losing excess weight, particularly around the waistline, can help
improve cholesterol levels.

Smoking Cessation: Quitting smoking can increase HDL cholesterol levels and decrease the
risk of heart disease.
Limit Alcohol Intake: Excessive alcohol consumption can raise triglyceride levels and
contribute to high cholesterol. Limit alcohol intake to moderate levels, if consumed.
Control and Treatment
Medication: In some cases, lifestyle changes may not be sufficient to lower cholesterol levels
adequately. Statins are a common class of medications prescribed to lower LDL cholesterol
levels. Other medications, such as bile acid sequestrants, cholesterol absorption inhibitors,
and PCSK9 inhibitors, may also be prescribed depending on individual needs and tolerance.

Regular Monitoring: Individuals with hypercholesterolemia should undergo regular

cholesterol screenings to monitor their levels and assess the effectiveness of lifestyle changes
and medications.

Lifestyle Modification Support: Working with a healthcare provider, dietitian, or certified

health coach can provide guidance and support in making sustainable lifestyle changes to
manage cholesterol levels effectively.

Management of Underlying Conditions: Addressing and managing underlying health

conditions, such as diabetes or hypothyroidism, can help improve cholesterol levels.

Patient Education: Educating individuals about the importance of cholesterol management,

risk factors, and lifestyle modifications can empower them to take control of their health.
References
Askinazi, O. (2022, August 5). High Cholesterol. Retrieved from healthline:
[Link]

Glycogen Storage Diseases. (2024). Retrieved from hopkinsmedicine:

[Link]
disease#:~:text=disease%20in%20children-
,Glycogen%20storage%20disease%20(GSD)%20is%20a%20rare%20condition%20that
%20changes,show%20any%20signs%20of%20GSD.

Ibrahim, M. A. (2023, April 23). Hypercholesterolemia. Retrieved from [Link]:

[Link]

Stone, W. L. (2023, May 29). Glycogen Storage Diseases. Retrieved from [Link]:
[Link]