Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridylyl transferase (GALT). This enzyme is needed to break down the sugar galactose. Without it, galactose builds up and causes serious health issues. The disorder is inherited in an autosomal recessive pattern and affects how the body processes lactose from milk. Symptoms in infants can include vomiting, jaundice, and failure to thrive if not treated early through a strict lactose-free diet. While not curable, dietary management throughout life can prevent complications and allow those with galactosemia to live healthy lives. The disorder is diagnosed through newborn screening to detect

1. Galactosemia
DR.SUNIL BHOYE
MPH(NUTRITION)
1

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
2

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
3

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
5

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)
6

7. Structure of Lactose breaking in to
Glucose and Galactose due to enzyme
Gale
7

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.
8

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.
9

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.
10

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.
11

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
12

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
13

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
14

15. Galactosemia
15

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
16

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
17

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.
20