This document provides information about galactosemia, a genetic disorder that prevents the body from breaking down the sugar galactose. It discusses the types of galactosemia, including classic galactosemia and Duarte galactosemia. Classic galactosemia is treated by eliminating galactose from the diet as it can cause serious damage if not broken down properly. The disorder is diagnosed through newborn screening and confirmed with genetic testing. Lifelong treatment involves avoiding dairy products to prevent galactose intake while supplementing lost nutrients.
3. What is Galactose ?
Galactose is a simple sugar, which belongs to
simple carbohydrate .
Galactose is a monosaccharide and has the
same chemical formula as glucose(C6H12O6).
Galactose different from glucose only in the
position of one hydroxyl group.this different give
galactose different chemical and biochemical
properities to glucose.
Name origin: From the Greek gala = milk, and -
ose, which denotes sugar.
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Is Galactose an essential nutrient?
Galactose Functions in the Human Body
-Galactose is not an essential nutrient
-Galactose can be synthesized in the human body
from glucose.
•In the human body, most of the ingested galactose is
converted to glucose, which can provide energy.
•Galactose can bind to glucose to make lactose (in breast
milk), to lipids to make glycolipids (for example, molecules
that constitute blood groups A, B and AB), or to proteins to
make glycoproteins (for example, in cell membranes).
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Major source
source of galactose
is lactose from milk
and yogurt
cheese
Butter Cottage cheese
cream Certain medications
may contain galactose
as a filler.
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Source of Galactose
7. Galactosemia
Galactosemia means “galactose in the blood”
This inherited disorder prevents your body from breaking down the sugar galactose
Galactosemia can be a problem for newborns because galactose is present in both
breast milk and most baby formulas.
An enzyme ( galactose reductase ) that is not supposed to be involved with galactose
converts it to galactitol, an alcohol derivative that is toxic to the body, it can cause
serious damage
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Who does galactosemia affect?
Galactosemia is a genetic disorder.
It can affect anyone who inherits the mutated genes (one from each
parent). If both of your parents are carriers of the mutated gene.
you have a 25% chance of inheriting galactosemia. This condition
happens around the world.
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What are the signs and symptoms of galactosemia?
Loss of appetite.
Lethargy.
Vomiting.
Diarrhea.
Severe weight loss.
Weakness.
Failure to thrive.
Jaundice.
Enlarged liver.
Abdominal swelling with fluid (ascites).
Swelling around the brain (edema).
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Duarte galactosemia
Duarte galactosemia happens due to mutations in the GALT gene
the same gene that causes classic galactosemia.
It’s simply a less severe mutation.
People with Duarte galactosemia may have some digestive difficulties from foods
containing galactose, but they don’t have the same medical complications.
They don’t necessarily have to avoid galactose in their diet.
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How is galactosemia diagnosed?
it is standard procedure to screen newborn babies for a list of disorders
including classic galactosemia.
The screening is done by pricking your baby’s heel and drawing a little blood,
usually about 24 hours after they are born.
Child who has galactosemia, the blood test will show reduced GALT enzyme
activity in their blood.
Your healthcare team will follow up these results with genetic testing to
identify the type of galactosemia your child has.
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How do you treat galactosemia?
The only known way to treat galactosemia is to eliminate galactose from your
diet.
Galactose is a component of lactose, so this usually means avoiding dairy
products.
Newborns can receive a soy-based or elemental formula.
Children and adults may need to supplement their calcium and vitamin D
intake to
make up for the lack of dairy products in their diet.
Treatment
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Some children may require extra support with learning and development as
they grow up. This might include:
Speech therapy.
Occupational therapy.
Behavioral therapy.
Targeted learning plans.
Teenagers may require hormone therapy in order to
induce puberty and menstruation
Treatment
