Galactosemia is a rare genetic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is responsible for breaking down the sugar galactose. This causes galactose and its metabolites to accumulate and can damage the liver, kidneys, and brain if not treated. The only treatment is eliminating all sources of galactose from the diet. If untreated, it can cause complications like cataracts, speech problems, poor bone density, and intellectual disabilities. The document provides details on the causes, types, symptoms, diagnosis, and management of galactosemia.

1. PRESENTEED BY,
HINA RODGE
GALACTOSEMIA

2. Introduction:
● Milk and dairy products contain lactose, the major
dietary source of galactose.
● The metabolism of galactose produces fuel for
cellular metabolism through its conversion to
glucose-1-phosphate.
● Galactose also plays an important role in the
formation of galactosides, which include
glycoproteins, glycolipids, and
glycosaminoglycans.

3. ● Galactosemia denotes the elevated level of
galactose in the blood and is found in 3 distinct
inborn errors of galactose metabolism in 1 of the
following enzymes: galactose-1-phosphate uridyl
transferase, galactokinase, and uridine
diphosphate galactose-4-epimerase.

4. ● Deficiency of galactose-1-phosphate
uridyltransferase (GALT) results in accumulation
of galactose-1-phosphate and metabolites (e.g.
galactitol) that might have toxic effect on the liver
and other organs.

5. Definition:
It is a rare autosomal recessive defect, due to
absence of the enzyme, galactose-1-phosphate-
uridyletransferase which is responsible for
converting galactose to glucose.

6. Incidence:
● Its incidence is about 1 per 60,000 births for
people of European ancestry.
● In India its incidence is 1 in 25000. Gender wise it
is equally distributed

7. Causes:
● Genetic causes, (genetic mutation, and family
history).
● Accumulation of galactose.
● Reduction to galactitol.

8. Types:
● There are 3 forms of this disorder.
1. Classic galactosemia
2. Galactokinase deficiency
3. Deficiency of uridyl diphosgalactose-4 epimerase
deficiency

9. Classic galactosemia :
● It results from deficiency of galactose-1
phosphate uridyl transferase.
● The absence of this enzyme results in
accumulation of galactose-1-phosphate, it causes
injury to the kidney, liver and brain.

10. Clinical manifestations of Classic
galactosemia :
● In the newborn : jaundice, hepatomegaly,
vomiting, hypoglycaemia, convulsions, lethargy,
and irritability, feeding difficulties, poor weight
gain, aminoaciduria, cataract, hepatic cirrhosis,
ascites, splenomegaly and mental retardation.
● Gram-negative sepsis, especially with E. coli is
common.

11. Diagnosis
● urine samples collected while the patient is
receiving milk. Urine can be identified as
galactose by chromatography or by enzymatic
test specific for galactose.
● Final confirmation of diagnosis is made by
estimating transferase enzymes in erythrocytes.

12. Treatment
● The treatment consists of total elimination of
galactose from the diet (milk and milk products)
right from birth to avoid liver injury, mental
retardation, cataract and recurrent
hypoglycaemia.

13. Galactokinase deficiency:
● This disorder results from absence of galactokinase
that catalyzes the initial phosphorylation of
galactose and is clinically characterized by
galactosemia, galactosuria and cataract without
mental retardation or aminoaciduria.
● Definitive diagnosis: test done for deficiency of
galactokinase activity in erythrocytes.

14. Deficiency of uridyl diphosgalactose-4
epimerase deficiency:
● This disorder may be benign or like classical
galactosemia depending on the type of disorder.
Treatment : Galactose free diet..

15. Diagnosis Evaluation:
● Infants affected by galactosemia typically present
with symptoms of lethargy, vomiting, diarrhea,
failure to thrive and jaundice.
● Newborn screening: amniocentesis or from the
placenta (chorionic villus sampling or CVS).
● Galactosemia test : It is a blood test or urine test
that checks for three enzymes.

16. ● Screening tests are used to screen infants
affected with galactosemia — the Beutler's test
and the Hill test.

17. Management:
● The only treatment for classic galactosemia is
eliminating lactose and galactose from the diet.
Infants with classic galactosemia cannot be
breast-fed due to lactose in human breast milk
and are usually fed a soya-based formula. Foods
like butter, non-fat milk, buttermilk, Cream, milk
Chocolate, soy Sauce are not acceptable in the
diet for galactosemia.

18. Complications
● Speech deficits.
● Ataxia.
● Dysmetria.
● Diminished bone density.
● Cataract.