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

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

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

UDP-glucose 4-epimerase UDP-galactose

Glucose 1-phosphate Lactose

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

UDP-glucose 4-epimerase UDP-galactose

(classic galactosemia) 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.

Inherited disorder

Symptoms Vomiting Lethargy Irritability Convulsions Poor weight gain Poor feeding

Signs Hepatomegaly Hypoglycemia Aminoaciduria

Complications 

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.

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

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

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: 18.5-28.5 units per gram (U/g) of hemoglobin (the person does not have galactosemia) Normal: less than 5 U/g (the person has galactosemia) 5-18.5 U/g (the person is a carrier of galactosemia) Abnormal:

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:

Prognosis

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/