DR.SUNIL BHOYE BAMS, MPH(NUTRITION)

1. Galactosemia
DR.SUNIL BHOYE
MPH(NUTRITION)
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2. Content
• Introduction
• Synonyms and Subdivisions
• Structure of Lactose breaking in to Glucose
and Galactose due to enzyme Gale
• How does Galactosemia occur?
• Can it be passed to future generation or is it
heredity?
• Brief History of Galactosemia
• Type of mutation
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3. Content
• Where does it occur in a
karyotype/chromosome/gene.
• Signs/Symptoms in Adults & Infants
• How is it diagnosed
• Is it curable/How is it treated
• References
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4. Introduction
• Galactosemia is a rare, hereditary disorder of
carbohydrate metabolism that affects the body’s
ability to convert galactose (a sugar contained in
milk, including human mother’s milk) to glucose
(a different type of sugar).
• The disorder is caused by a deficiency of an
enzyme galactose-1-phosphate uridylyl
transferase (GALT) which is vital to this process.
• Early diagnosis and treatment with a lactose-
restricted (dairy-free) diet is absolutely essential
to avoid profound intellectual disability, liver
failure and death in the newborn period. 4

5. Introduction
• Galactosemia is inherited as an autosomal
recessive genetic condition.
• Classic galactosemia and clinical variant
galactosemia can both result in life-
threatening health problems unless treatment
is started shortly after birth.
• A biochemical variant form of galactosemia
termed Duarte is not thought to cause clinical
disease due to lactose consumption
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6. Synonyms and Subdivisions
• Synonyms of Galactosemia
• Galactose-1-phosphate uridylyl transferase
deficiency
• Transferase deficiency galactosemia
• GALT deficiency
• Subdivisions of Galactosemia
• Classic galactosemia
• Clinical variant galactosemia
• Biochemical variant galactosemia (Duarte variant
galactosemia)
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7. Structure of Lactose breaking in to
Glucose and Galactose due to enzyme
Gale
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8. How does Galactosemia occur?
• Galactosemia occurs when a child inherits a
defective gene from each parent.
• Lacking a normal copy of this gene, the child
cannot make one of the enzymes necessary to
breakdown galactose.
• There is a simple sugar called galactose where
the body produces. Also there is a large sugar
called lactose.
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9. Can it be passed to future generation
or is it heredity?
• The genetically significant mutations occur in
reproductive cells and can therefore be
transmitted to future generations.
• Natural selection acts upon the genetic
diversity generated by mutation to preserve
beneficial mutations and eliminate deleterious
ones.
• It is a heredity recessive disease.
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10. Brief History of Galactosemia
• Galactosemia was first discovered in 1908 by the
physician Von Ruess.
• It was first recognized and described in detail in
1935 by Mason and Turner.
• Leloir worked out the metabolic pathway and the
process of sugar-nucleotides and won the Nobel
prize in Chemistry in 1970 for his work.
• The defective gene that caused it was found in
1956.It was first found to be detectable through a
newborn screening method in This method was
developed by Guthrie and Paigen.
• Galactosemia affects 1 in every 55,000 newborns.
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11. Type of mutation
• The gene mutation (usually "Q188R") that
causes galactosemia is inherited in what is
called an autosomal recessive pattern.
• Galactosemia is a recessive gene.
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12. Where does it occur in a
karyotype/chromosome/gene.
• Most people with galactosemia are missing an
enzyme (called GALT) in chromosome to get the
disorder, a child must inherit one defective gene
from each parent.
• Galactosemia is inherited in an autosomal
recessive manner, meaning a child must inherit
one defective gene from each parent to show the
disease.
• Heterozygotes are carriers, because they inherit
one normal gene and one defective gene.
• Carriers show no symptoms of galactosemia
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13. Signs/Symptoms in Adults & Infants
• Adults
• Speech difficulties
• Learning disabilities
• Ovarian failure for female
• Infants
• Lethargy
• Vomiting
• Diarrhea
• Failure to thrive
• Jaundice
• Hypoglycemia, Hypotonia
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14. How is it diagnosed
• In most states, babies are tested for
galactosemia at birth.
• Using a tiny blood sample taken from the
baby's heel, the test checks for low levels of
the GALT enzyme.
• This allows for prompt treatment, which can
substantially prevent the serious symptoms of
this disorder
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15. Galactosemia
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16. Is it curable/How is it 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, and legumes (dried
beans).
• People who have GALT should stay away from
food which have GALT.
• It is not cure but there are several treatments
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17. Dietary Management
Initial management that continues throughout life
• Eliminate galactose from the diet
– Lactose*
– Galactose*
• Life-long diet
• Calcium supplements
• Avoid some pharmaceuticals
• Endogenous galactose
• Vitamin K
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18. 18
Low Galactose Food Pattern
Food Group Allowed Not Allowed
Milk & Milk Substitutes Soy or MCT Formula:
Isomil, Nutramigen,
Prosobee, Pregsestimil
Breast Milk, Animal
Milk, Cheeses, Butter,
Ice Cream, Yogurt
Fruits Most Frozen, Fresh,
Canned & Dried*
Dates, Papaya,
Persimmon,
Watermelon
Vegetables Most Frozen, Fresh,
Canned, & Dried*
Bell Peppers,
Tomatoes
Meats & Meat Substitutes Beef, Poultry, Lamb, Ham
Pork, Fish, Game, Kosher
Franks, Eggs, Nuts
None*
Breads Rice, Pasta, Cereals,
Breads
None*
Fats Oil, Lard, Shortening,
Mayonnaise
Butter, some
margarines

19. Long Term Management
• Outpatient review throughout life
– Dietary compliance
– Growth
• Biochemical Analysis
– Red Cell Galactose-1-Phosphate
– Urinary Galactitol
• Development
– Speech
– Cognition
– Motor skills
• Ophthalmology 19

20. References
• Galactosemia(GALT) By Raveeja V Deshpande.
• NORD (National Organization For Rare
Disorders)
• https://www.indianpediatrics.net/jan2016/21.
pdf
• JH Walter, JE Collins & JV Leonard, 1999.
• LK Mahan & S Escott-Stump, 1996.
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