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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
• Pictures & Images
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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