2. What is Galactosemia?
• Galactosemia is a disorder that occurs
when the body is unable to break down a
type of sugar called galactose that is
found in milk and milk products.
• Instead of being changed into glucose,
which the body uses for energy, galactose
builds up and can cause damage to the
brain, eyes, liver and kidneys.
3. • In another words , Galactosemia is a disorder
that causes a certain kind of sugar to build up in
thebody.
• This sugariscalled galactose.
• A modified diet will help prevent the disorder
fromharming yourbaby.
• Your baby cannot have food that has galactose
init.
• Most galactose comes frommilksugar.
• Milksugar iscalled lactose.
• Itisinallfoods that haveanimal milkinthem.
4. • Itisinbreastmilkandmanybabyformulas.
• Ababywithgalactosemia doesn't haveoneof
theenzymes that changes galactose into glucose.
• Sogalactose builds upinthebody.
• This cancausedamage tothebrain, eyes,liver
andkidneys.
• Thedamage can bereduced bytaking galactose
out ofthediet.
5. • Those suffering from galactosemia cannot
properly break down galactose as the
result of a genetically inherited mutation
in one of the enzymes in the Leloir
pathway.
• These individuals cannot break down
galactose properly, so the consumption of
even small amounts of galactose is
harmful to galactosemics.
6. Leloir pathway
• Galactose is a hexose sugar found in the
disaccharide lactose.
• Galactose has six carbons like glucose and differs
from glucose only in the stereochemistry of one
carbon, C4. The enzymes of carbohydrate
metabolism are specific enough that galactose
must be changed to glucose before it can enter
glycolysis. Dr. Luis Leloir won the 1970 Nobel
Prize in part for his contribution to the
understanding of galactose metabolism
7. • To convert galactose to glucose, it is first
phosphorylated by galactokinase to produce
galactose-1-phosphate.
• Galactose is then exchanged with the glucose
group in UDP-glucose to create UDP-galactose
and release glucose-1-phosphate.
• An epimerase enzyme changes the
stereochemistry of C4 in UDP-galactose, creating
UDP-glucose.
• In the next round of the transfer reaction, this
glucose is released as glucose-1-phosphate.
8. • Once released, glucose-1-phosphate is converted
to glucose-6-phosphate and can enter glycolysis
to generate energy.
• Mutation of the kinase, the transferase or the
epimerase can result in clinical deficiencies in
galactose metabolism known as galactosemias.
• Galactosemias range in severity depending on
the nature of the genetic change, and are usually
treated through avoidance of galactose in the
diet, primarily from lactose in dairy products.
9. Figure 1. Metabolic pathways of galactose assimilation. Solid arrows indicate the
classical Leloir pathway of galactose disposal and subsequent oxidation to CO2. GALE,
UDP-galactose 4 epimerase; GALK, galactokinase; GALT, Galactose-1-phosphate
uridyltransferase. Empty arrows indicate the three known alternative pathways of
galactose catabolism: galactose reduction to galactitol, galactose oxidation to
galactonate and subsequent oxidation to CO2 and conversion of galactose-1-
phosphate to UDP-galactose by UGP (UDP-glucose pyrophosphorylase) and
subsequent conversion to glycogen and oxidation to CO2.
10. What Causes Galactosemia
• Galactosemia is inherited.
• A person with galactosemia inherited it
from both parents just as he or she inherited
hair, skin or eye color.
• This is not something person will outgrow.
• He will always have it.
• Therefore, he may have additional health
needs as she/he grows older.
• Galactosemia is not contagious.
•
11. • That means you cannot “catch” it like acommon cold.
• He cannot “give” it to anotherchild.
• He cannot eat foods that have galactose in them.
• Most galactose comes from milk sugarcalled lactose.
• It is in all foods that have animal milk in them.
• It is in breast milk andmany baby formulas.
• Amodified diet will help prevent this disorder.
• Long term complication of galactosemia includes:
1. Speechdeficits
2. Ataxia
3. Dysmetria
4. Diminishedbonedensity
5. Prematureovarianfailure
6. Cataract
12. How is galactosemia treated?
• The only way to treat galactosemia is through
dietary restrictions.
• People with the disorder must stay away from
foods and drinks containing galactose, including
milk,cheese, andlegumes (dried beans).
• Any other foods that contain milk or milk
products.
• They mustfollow this diet fortheir entire lives.
13. • Galactosemia is treated with a modified
diet.
• This diet is called the galactose
restricted diet.
• It can help prevent severe damage from
occurring to the brain, eyes, liver, and
kidneys.
• Children who start the diet as infants
and stay on the diet are less likely to
have these problems.
15. How Can a person Make Sure Foods
Are Safe?
• Read the label on all packaged foods.
• Many packaged and processed foods are unsafe.
• For example, "creamed corn" contains nonfat dry
milk, which is unsafe.
16. • Do not buy foods that list any of these
items:
1. milk, butter, cream, yogurt
2. cheese
3. nonfat dry milk or milk solids
4. whey or whey solids (milk proteins)
5. lactose (milk sugar)
6. casein (milk protein)
• If there is no label or the contents are not
listed, do not eat this food
17. • Not always.
• Lactose is often used as a "filler" in
medicine, such as penicillin.
• Fillers are inactive ingredients and may not
be listed on the container.
• Fillers may also be added to vitamin and
mineral supplements .
• Laberls will list nutrients, but may not list
fillers.
Are Medicines or Vitamins Safe?
18. • If a sugar is added, the type of sugar
may not be shown.
• Remind your doctor that fillers cannot
include lactose.
• Talk with your doctor, nutritionist or
pharmacist before giving your child any
medicines or food supplements. Your
doctor may need to talk with the drug
company to make sure the medicine is
safe for your baby.
