2. Definition Forms of galactosemia Cause Symptoms Signs Complications
The main points:
Incidence
Definition
Forms of galactosemia
Cause
Symptoms
Signs
Complications
Clinical tests
Prognosis
Treatment
Prevention

3. Accumulation of galactose in the blood.
Definition
Accumulation of galactose in the blood.

4. Galactose-1-phosphate uridyl transferase
CH2OH
CH2OH
Galactokinase P O P O
Galactose
Glucose1-p
ATP
ADP
Galactose1-P
Phosphoglucomutase
CH2O
CH2OH P
Glucose6-phosphatase
Glucose 6-phosphate
ATP
Glucose
ADP
GLYCOLYSIS

5. UDP-glucose 4-epimerase
UDP-galactose

6. Glucose 1-phosphate
Lactose

7. Galactose-1-phosphate uridyl transferase
CH2OH
CH2OH
Galactokinase P O P O
Galactose
Glucose1-p
ATP
ADP
Galactose1-P
Phosphoglucomutase
CH2O
CH2OH P
Glucose6-phosphatase
Glucose 6-phosphate
ATP
Glucose
ADP
GLYCOLYSIS

8. UDP-glucose 4-epimerase
UDP-galactose

9. (classic galactosemia)
Alternative names for Galactosemia
Galactose-1-phosphate uridyl transferase deficiency
(classic galactosemia)
Galactokinase deficiency
Uridine diphosphogalactose 4-epimerase deficiency

10. Cause
The gene that codes for galactose-1-phosphate uridyl transferase (GALT) is located on chromosome 9.

11. Inherited disorder

12. Symptoms Vomiting Lethargy Irritability Convulsions Poor weight gain
Poor feeding

13. Signs
Hepatomegaly
Hypoglycemia
Aminoaciduria

14. Complications 

15. Galactosemia occurs at a rate of approximately 1 out of 60,000 births.
Incidence
Galactosemia occurs at a rate of approximately 1 out of 60,000 births.

16. Clinical tests BLOOD TESTING:
Check for the amounts of the high sugar galactose:
Drops of blood treated paper
bacteria
Growth (+)ve
Not growth (-)ve

17. The results negative (galactosemia is not present) Normal:
positive (galactosemia is present)
Abnormal:

18. BLOOD TESTING
Check for the presence of the Galactose-1-phosphate uridyl transferase:-
Drops of blood treated paper UV

19. The results Normal blood glows Blood that lacks the enzyme
does not glow

20. Measuring of the amount of galactose transf- erase enzyme in the blood:
units per gram (U/g) of hemoglobin (the person does not have galactosemia)
Normal:
less than 5 U/g (the person has galactosemia)
U/g (the person is a carrier of galactosemia)
Abnormal:

21. Check for the presence of the galactose in the urine:
URINE TESTING
Check for the presence of the galactose in the urine:
negative (galactosemia is not present)
Normal:
positive (galactosemia is present)
Abnormal:

22. Prognosis

23. Treatment Galactose-1p = 3 to 4 mg/100 ml. The alternatives:
lactose-free formula
Fruits & vegetables
Bread & grains
Fats

24. Prevention
Genetic counseling

25. References:
♣ Thomas A. Devlin :biochemistry with clinical correlations,6th edition 2006. ♣ ♣ ♣