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Understanding Galactosemia: Incidence, Diagnosis, Treatment, and Prevention

Galactosemia is a rare inherited disorder characterized by the accumulation of galactose in the blood due to enzyme deficiencies. Learn about its forms, symptoms, clinical tests, complications, and treatment options, as well as how to prevent it through genetic counseling. References included.

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Understanding Galactosemia: Incidence, Diagnosis, Treatment, and Prevention

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

  2. Definition Accumulation of galactose in the blood.

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

  4. UDP-glucose UDP-glucose 4-epimerase UDP-galactose

  5. Glucose 1-phosphate Lactose

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

  7. UDP-glucose UDP-glucose 4-epimerase UDP-galactose

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

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

  10. Inherited disorder

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

  12. Signs Hepatomegaly Hypoglycemia Aminoaciduria

  13. Complications

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

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

  16. The results

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

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

  19. Measuring of the amount of galactose transf- erase enzyme in the blood:

  20. URINE TESTING Check for the presence of the galactose in the urine:

  21. Prognosis

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

  23. Prevention Genetic counseling

  24. References: ♣ Thomas A. Devlin :biochemistry with clinical correlations,6th edition 2006. ♣ www.dept.washington.edu ♣ www.galactosemia.org ♣ www.nlm.nih.gov/medlineplus/

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