This document discusses galactosemia, a rare genetic disorder that affects the body's ability to process galactose. Galactose is produced when lactose is broken down in the body. Normally it is converted to glucose for energy, but in galactosemia there is a deficiency in the enzyme galactose-1-phosphate uridyltransferase, preventing this process. As a result, galactose builds up in tissues and can cause issues like jaundice, cataracts, intellectual disability and liver/kidney problems. The disorder is treated by removing galactose and lactose from the diet. There are three types of galactosemia based on the specific enzyme deficiency.

1. PRESENTED BY:
BINDU JACOB

2. Introduction
• Galactose is a simple sugar found in many
foods.
• When lactose is broken down in the body,
glucose and galactose are produced.
• Galactose is converted into glucose in the
body for energy purpose in the Leloir
pathway.

3. SOURCES
• Dairy products
• Fruits
• Vegetables

4. Normally when a person consumes
a product that contains lactose (eg:
dairy products such as
milk,cheese,butter), the body
breaks the lactose down into
galactose and glucose.

5. GALACTOSE
METABOLISM
PATHWAY

6. WHAT IS GALACTOSEMIA?
It is a rare genetic metabolic disorder that
affects how the body processes a simple sugar
called galactose.
Inability of the body to use galactose to produce
energy.

7. 3 inborn errors related to galactose
metabolism:
1. Galactose-1-phosphate uridyltransferase
deficiency
2. Galactokinase deficiency
3. Uridine diphosphate-galactose 4-epimerase
deficiency

8. Galactosemia is due to deficiency of the enzyme
galactose 1-phosphate uridyltransferase.
It is a rare congenital disease in infants, inherited as
autosomal recessive disorder.
Mutation in the GALT gene located on chromosome 9 is
responsible for this disorder.
1. Galactose metabolism is impaired leading to increased
galactose levels in blood (galactosemia) and urine
(galactosuria).
2. Accumulated galactose is diverted for production of
galactitol by the enzyme aldol reductase. Galactitol has
been implicated in the development of cataract.

10. 3. The accumulation of galactose 1-phosphate and
galactitol in various tissues like liver, nervous tissue,
lens and kidney leads to impairment in their function.
4. The accumulation of galactose 1-phosphate in liver
results in the depletion of inorganic phosphate for
other metabolic functions.
CLINICAL SYMPTOMS:
• Weight loss (in infants)
• Hepatosplenogamy
• Jaundice
• Mental retardation
• Severe cases : cataract, amino aciduria and
albuminuria.

11. DIAGNOSIS:
Early detection of galactosemia is possible
by measuring the activity of galactose 1-
phosphate uridyl transferase in
erythrocytes.
Genetic screening test done.
TREATMENT:
Supplying diet deprived of galactose and
lactose.

12. • Defect in the enzyme galactokinase
responsible for phosphorylation of galactose.
• Mutation in GALK1 gene.
• Galactose is shunted to the formation of
galactitol.
• Cataract development at a very early age,
sometimes within an year after birth.
• Treatment involves removal of galaatose and
lactose from the diet.

13. • Extremely rare.
• Mutations in GALE gene is responsible.
• Symptoms vary from mild to severe and can
include cataracts, delayed growth and
development, intellectual disability, liver
disease and kidney problems.