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The main points:. Incidence. Clinical tests. Definition Forms of galactosemia Cause Symptoms Signs Complications. Prognosis. Treatment. Prevention. Definition. Accumulation of galactose in the blood. Galactose-1-phosphate uridyl transferase. CH 2 OH. CH 2 OH.
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The main points: Incidence Clinical tests Definition Forms of galactosemia Cause Symptoms Signs Complications Prognosis Treatment Prevention
Definition Accumulation of galactose in the blood.
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
UDP-glucose UDP-glucose 4-epimerase UDP-galactose
Glucose 1-phosphate Lactose
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
UDP-glucose UDP-glucose 4-epimerase UDP-galactose
Alternative names for Galactosemia Galactose-1-phosphate uridyl transferase deficiency (classic galactosemia) Galactokinase deficiency Uridine diphosphogalactose 4-epimerase deficiency
Cause The gene that codes for galactose-1-phosphate uridyl transferase (GALT) is located on chromosome 9.
Symptoms Vomiting Lethargy Irritability Convulsions Poor weight gain Poor feeding
Signs Hepatomegaly Hypoglycemia Aminoaciduria
Incidence Galactosemia occurs at a rate of approximately 1 out of 60,000 births.
Clinical tests BLOOD TESTING: Check for the amounts of the high sugar galactose: Drops of blood treated paper bacteria Growth (+)ve Not growth (-)ve
BLOOD TESTING Check for the presence of the Galactose-1-phosphate uridyl transferase:- Drops of blood treated paper UV
The results Normal blood glows Blood that lacks the enzyme does not glow
Measuring of the amount of galactose transf- erase enzyme in the blood:
URINE TESTING Check for the presence of the galactose in the urine:
Treatment Galactose-1p = 3 to 4 mg/100 ml. The alternatives: lactose-free formula Fruits & vegetables Bread & grains Fats
Prevention Genetic counseling
References: ♣ Thomas A. Devlin :biochemistry with clinical correlations,6th edition 2006. ♣ www.dept.washington.edu ♣ www.galactosemia.org ♣ www.nlm.nih.gov/medlineplus/