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galactose-1-phosphate uridyltransferase…

 

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what the risks are galactosemia screen, galt, gal-1-put, galactose-1-phosphate uridyltransferase, blood test that measures the level of galt, an enzyme involved in breakdown of milk sugars, lactose/galactose, blood is drawn, a vein, the elbow, the hand, puncture site is cleaned, antiseptic, an elastic band, around the upper arm to apply pressure, vein to swell, blood, a needle is inserted, vein, blood is collected in an air-tight vial, a syringe, band is removed, restore circulation, once the blood has been collected, needle is removed, puncture site is covered to stop any bleeding, in infants, young children, area is cleansed, antiseptic, punctured, a sharp needle, a lancet, blood collected, pipette, small glass tube, on a slide, onto a test strip, into a small container, a bandage applied, puncture site, any bleeding, no special preparation, infants, children, test depends on child's age, previous experience, level of trust, prepare child, infant test, procedure preparation, birth to 1 year, toddler test, procedure preparation, 1 to 3 years, preschooler test, procedure preparation, 3 to 6 years, schoolage test, procedure preparation, 6 to 12 years, adolescent test, procedure preparation, 12 to 18 years, the skin is pricked, the needle, discomfort, experience moderate pain others feel only a prick, stinging sensation, site bruised, screening test, galactosemia, in normal diets, major source of galactose, in the metabolism of lactose, major source of dietary lactose is milk, dairy products, in most people, galactose is converted to glucose by a series, chemical reactions, each chemical reaction is catalyzed, enzyme, 1 out of 65,000 newborns has a deficiency, the galt enzyme, deficiencies, the other enzymes, less common, a consequence, galactose accumulates, in the blood, galactosemia, tissues, it cannot be metabolized, milk, important part, the diet of most newborns, infants develop fluid imbalance, failure to thrive, continued use of galactose, result in cataracts, jaundice, liver enlargement, cirrhosis, mental retardation normal range is 18.5 to 28.5 u/g hb, units per gram of hemoglobin, important to note that normal values, from laboratory to laboratory, galactosemia is indicated by a significantly reduced level of activity, further tests, confirm the diagnosis of galactosemia, a specialist in biochemical genetics, consulted promptly, child should immediately be placed on a no-milk diet, no breast milk, no animal milk, risks, venipuncture, multiple needle sticks performed first one 'misses' a vein, excessive bleeding, hematoma, blood collection under the skin, infection, a risk, the skin is broken, although the disease, treated by removing milk, diet, early recognition is essential, states, in fact, require that all newborns be screened, screening tests, set to be very sensitive so, not to miss many infants, galactosemia, screening tests, come back abnormal but follow-up testing to confirm the abnormal result show the baby to be normal in many cases, veins, arteries vary in size, obtaining a blood sample.



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