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Galactosemia
Alternate Names : Galactokinase Deficiency, Galactose-1-Phosphate Uridyl Transferase Deficiency, Galactose-6-Phosphate Epimerase Deficiency
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Galactosemia Diagnosis & Tests
Tests include:
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Prenatal diagnosis by direct measurement of the enzyme galactose-1-phosphate uridyl transferase.
- Reducing substances in infants urine with simultaneous normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose. One simple test on the urine with Clinitest indicates the presence of a reducing substance, and a specific enzymatic study on the urine can prove the substance to be galactose.
- Presence of chemical, called ketones, in urine.
- Measurement of enzyme activity in erythrocytes (red blood cells).
- Blood culture for bacteria infection (E. coli sepsis).
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Definition Galactosemia Overview, Causes, & Risk Factors Galactosemia Symptoms & Signs Galactosemia Prevention Galactosemia Diagnosis & Tests Galactosemia Treatment Galactosemia Prognosis Galactosemia Complications Galactosemia Support Groups Calling Your Health Care Provider
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Topics that might be of interest to you Diseases & Conditions
Ascites Cataract Cirrhosis Hypoglycemia Mental Retardation
Tests & Exams
Aminoaciduria Galactose-1-Phosphate Uridyltransferase
Other Topics
Autosomal Recessive Enzyme Fatigue Genetic Counseling and Prenatal Diagnosis Hepatomegaly Irritability Jaundice - Yellow Skin Metabolize Nausea and Vomiting Poor Feeding in Infants Protein in Diet Seizures Weight Gain - Unintentional
Review Date : 1/31/2002
Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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