Title Page

Ginyard International Co.

Business Project
Proposal
Group 1
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About What?

Chemical Connections:
1. Galactosemia
2. Ascorbic acid/Vitamin C and Glucose
3. Blood Sugar Tests
4. Oligosaccharides

Clinical Focus:
1. Diabetes
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About What?

GALACTOSEMIA
 Title Page Content Galactosemia

What is Galactosemia?

What is Galactosemia?

According to MedlinePlus (2023),

Galactosemia is a condition in which
the body cannot use (metabolize) the
simple sugar galactose.

It is a metabolic disorder that some

babies are born with.

Currently, Galactosemia can only be

treated and not be cured.
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Causes and Types Galactosemia

WHAT CAUSES GALACTOSEMIA?

Classic galactosemia occurs when an enzyme called galactose-1-phosphate uridyltransferase
(GALT) is missing or not functional.

TYPES OF GALACTOSEMIA
1. Classic Galactosemia (GALT, Type 1/ Galactose-1 phosphate uridyl transferase (GALT)
deficiency
2. Galactokinase Deficiency (GALK, Type 2)/ Deficiency of galactose kinase (GALK)
3. Galactoepimerase Deficiency (GALE, Type 3)/Deficiency of Galactose-6 phosphate epimerase
4. Duarte Galactosemia (DG)
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Classic Galactosemia

1. Classic Galactosemia (GALT, Type 1/ Galactose-1

phosphate uridyl transferase (GALT) deficiency
Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that
impairs the body's ability to process and produce energy from a simple sugar called
galactose.

Rarely, a child with GALK will have pseudotumor cerebri, a condition which mimics the
symptoms of a large brain tumor when no brain tumor is present.

GALK is an inherited condition in which the body is unable to properly digest galactose, a sugar
found in all foods that contain milk and some fruits and vegetables.
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Early Signs of Classic Galactosemia

Early signs of Galactosemia :

Poor weight gain and growth

Poor feeding and sucking
Vomiting
Diarrhea
Sleeping longer or more often
Tiredness
Irritability
Low blood sugar (hypoglycemia)
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Treatment for Classic Galactosemia

Treatment:
Treatment of galactosemia is most successful if initiated early and includes dietary restriction
of lactose intake.

On initial screening, which often involves measuring the concentration of galactose in blood,
classic galactosemia may be indistinguishable from other inborn errors of galactose
metabolism, including galactokinase deficiency and galactose epimerase deficiency.

The current therapeutic standard of care, a galactose-restricted diet, is effective in treating

neonatal complications but is inadequate in preventing burdensome complications
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Galactokinase Deficiency

2. Galactokinase Deficiency (GALK, Type 2)/

Deficiency of galactose kinase (GALK):
Galactokinase deficiency (GALK), a mild type of galactosemia, is an inherited disorder that
impairs the body's ability to process and produce energy from a simple sugar called
galactose.

Rarely, a child with GALK will have pseudotumor cerebri, a condition which mimics the
symptoms of a large brain tumor when no brain tumor is present.

GALK is an inherited condition in which the body is unable to properly digest galactose, a sugar
found in all foods that contain milk and some fruits and vegetables.
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Treatment for Galactokinase Deficiency

Treatment:

Galactokinase deficiency is treated with a lactose- and galactose-restricted diet -- which

requires limiting foods such as cheese, butter, and chocolate -- and calcium supplementation.

Typically, cataracts that are due to galactokinase deficiency resolve after the individual makes
these dietary changes.
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Galactoepimerase Deficiency

3. Galactoepimerase Deficiency (GALE, Type

3)/Deficiency of Galactose-6 phosphate epimerase:
Galactose epimerase deficiency is an autosomal recessive disorder,[5] which means the
defective gene is located on an autosome, and two copies of the defective gene - one from
each parent - are required to inherit the disorder.

The parents of an individual with an autosomal recessive disorder both carry one copy of the
defective gene, but usually do not experience any signs or symptoms of the disorder

There are three forms of GALE (generalized, peripheral, and intermediate). Some of these forms
are more severe, while others are milder. Severe forms of GALE can lead to eye problems
(cataracts), delayed growth and development, intellectual disabilities, liver disease, kidney
problems or even death.
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Signs of GALE and its Treatment

Signs of generalized GALE usually start shortly

after birth and include:
Weak muscle tone (hypotonia)
Poor feeding and sucking
Vomiting
Weight loss

Treatment:
Persons with generalized epimerase deficiency galactosemia should be on a galactose/lactose-
restricted diet, certainly as infants and perhaps for life. Persons with intermediate epimerase
deficiency galactosemia may be placed on a galactose/lactose-restricted diet, either transiently
or long-term.
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Duarte Galactosemia and Treatment

4. Duarte Galactosemia (DG)

While this is more common, it is far less severe.

DG occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase' (GALT) is not

working properly.

Treatment:
Lactose and galactose-free diet
Special lactose-free formula
Calcium supplements
Monitoring health
Informing friend, relatives, teachers and child-care providers
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Demographics

Demographics
Galactosemia affects 1 in every 40,000 to 1 in 60,000 newborns around the world. Usually,
classic galactosemia is rare, it occurs in approximately 1 in 45,000 people. A milder variant
known as Duarte galactosemia is more common, it affects about 1 in 4,000 people.

Carriers do not have galactosemia because the other gene of this pair is working correctly.
When both parents are carriers, there is a 25% chance in each pregnancy for the child to
have galactosemia. There is a 50% chance for the child to be a carrier, just like the parents.
And, there is a 25% chance for the child to have two working genes.
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Normal vs Abnormal;

Normal vs Abnormal
NORMAL ABNORMAL

The body is able to

properly metabolize The body is unable to properly metabolize galactose,
METABOLISM galactose, a sugar found which can lead to a build up of galactose in the blood and
in milk and other dairy tissues.
products.

The body appears normal

The body may show signs of illness. Such as jaundice,
APPEARANCE and healthy.
vomiting, diarrhea and weight loss.
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Normal vs Abnormal

Normal vs Abnormal
NORMAL ABNORMAL

The body develops The body may develop more slowly than normal, Both
DEVELOPMENT normally, both physically physically and mentally.
and mentally.

The body is less

susceptible to diseases The body is more susceptible to diseases and other health
HEALTH and other health problems, such liver damage and cataracts and
problems developmental delays.
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OLIGOSACCHARIDES
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What is Oligosaccharides?

What is Oligosaccharides?

A particular family of sugars or

saccharides known as
oligosaccharides is a form of
carbohydrate. They are made up
of a relatively few simple sugar
molecules (monosaccharides)
that are joined together in a form
resembling a chain.
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What is Blood Typing and it types?

What is blood typing?

Blood group typing, sometimes referred to as blood typing, is a medical laboratory test used to
identify a person's blood type or blood group.

Are there different types of blood typing?

There are different blood typing methods that are used to classify blood into different kinds
according to whether or not certain antigens are present on the surface of red blood cells. The ABO
system and the Rh system (sometimes called the Rhesus system) are the two most well-known and
often used blood-typing methods.
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The Role Of Oligosaccharides In Blood Typing

The Role Of Oligosaccharides In Blood Typing

Antigen Specificity: The oligosaccharide sequence defines whether an antigen is A, B, AB, or O.

The antigens of the ABO blood groups are linked to oligosaccharide chains that project above the
RBC surface.

These chains are bound to proteins and lipids in the RBC membrane. Antigen A (A-
oligosaccharides) and antigen B (B-oligosaccharides) are the two antigen types in the ABO
system. Genetics determines the presence or absence of these antigens, which define a
person’s blood type.
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The Structures Of Each Blood Type

The Structures Of Each Blood Type

Blood Type A: People with blood type A have antigen A (A-oligosaccharides) on the surface of their
red blood cells. The structure of blood type A is as follows:
Antigen Present: A-oligosaccharides
Absent Antigen: B-oligosaccharides

Blood Type B: People with blood type B have antigen B (B-oligosaccharides) on the surface of their
red blood cells. The structure of blood type B is as follows.
Antigen Present: B-oligosaccharides
Absent Antigen: A-oligosaccharides
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The Structures Of Each Blood Type

The Structures Of Each Blood Type

Blood Type AB: People with blood type AB have both antigen A and antigen B on the surface of their
red blood cells. The structure of blood type AB is as follows:
Antigen Present: A-oligosaccharides and B-oligosaccharides
Absent Antigen: None (both A and B antigens are present)

Blood Type O: People with blood type O have neither antigen A nor antigen B on the surface of their
red blood cells. The structure of blood type O is as follows:
Antigen Present: None (neither A-oligosaccharides nor B-oligosaccharides are present)
Absent Antigen: None
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The Structures Of Each Blood Type

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Similarities

Similarities:

Plasma Components: Regardless of blood type, the plasma component of blood contains water,
electrolytes, proteins, hormones, and waste products.

Red Blood Cells: Red blood cells (erythrocytes) are found in all blood types and are responsible for
transporting oxygen throughout the body.

White Blood Cells and Platelets: White blood cells (leukocytes) and platelets (thrombocytes) are
found in all blood types and play important roles in the immune system and blood clotting,
respectively.
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Differences

Differences:
Antigens on Red Blood Cells:

Type A: Has A antigens on the surface of red blood cells.

Type B: Has B antigens on the surface of red blood cells.
Type AB: Has both A and B antigens on the surface of red blood cells.
Type O: Has no A or B antigens on the surface of red blood cells.

Antibodies in Plasma:

Type A: Contains anti-B antibodies in the plasma.

Type B: Contains anti-A antibodies in the plasma.
Type AB: Has neither anti-A nor anti-B antibodies in the plasma.
Type O: Contains both anti-A and anti-B antibodies in the plasma.
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Differences

Differences:
Compatibility:

Type A: Can receive blood from A and O donors.

Type B: Can receive blood from B and O donors.
Type AB: Can receive blood from A, B, AB, and O donors (universal recipient).
Type O: Can receive blood only from O donors (universal donor).

Rh Factor (Rhesus Factor):

Rh-positive (Rh+): Has the Rh antigen on red blood cells.

Rh-negative (Rh-): Lacks the Rh antigen on red blood cells.